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Genetics- zoology
| Question | Answer |
|---|---|
| The term mutation was given by | Hugo de vries |
| Father of mutation? | Hugo de vries |
| Hugo de vries carried out his experiment on? | Oenothera lamarckiana (evening primose plant) |
| Darwin used the term for mutation | Sports |
| Who termed mutation as discontinuous variation? | Bateson |
| Bateson termed mutation as ? | Discontinuous variation |
| Father of modern genetics? | Bateson |
| Mutation changes genotype/phenotype? | Both |
| 2 phenomenon to variation in DNA | Recombination due tocrossing over during gametegenesis and mutation |
| Process of occurance of mutation | Mutagenesis |
| An offspring in which mutation has occurrd is called? | Mutant |
| The mutation causing agent is called? | Mutagen |
| Example of a mutagen? | UV radiations |
| A cancer causing gene? | Oncogene |
| Is carcinogenic or somatic muatation inheritable? | No |
| In somatic mutation a normal cell is transformed into? | Cancerous cell that develops cancerous tumour |
| Somatic or carcinogenic mutation is the result of? | Mutation caused in one’s lifespan due to defect in mitosis when the gene becomes malfunctioning in daughter cell and is changed into oncogene |
| Cancer causing agent is called? | Carcinogen |
| All carcinogens are essentially mutagens but not all mutagens are carcinogens | Hahhaaa |
| Two types of mutations? | Macro/ chromosomal mutation and micro/ gene mutation |
| Two types of macro mutations? | Quantitative and qualitative |
| Two types of quantitative mutations? | Polyploidy and aneuploidy |
| Change within a single genome? | Aneuploidy |
| Aneuploidy and polyploidy caused due to? | Non segregation of chromosomes during anaphase 1 of gametogenesis |
| Quantative chromosomal dirorderis mostly seen in? | Oogenesis in the female above 35years of age |
| Two types of aneuploidy? | Monosomy and trisomy |
| Polyploidy is the result of the failure of? | Cytokinesis after telophase stage |
| Polyploidy is often seen in? | Plants |
| Down’s syndrome was first discribed by and in? | Langdon down in 1866 |
| Down’s syndrome is monosomy or trisomy? | Trisomy |
| Down’s syndrome is due to the chromosome no.? | Additional copy on chromosome number 21 |
| Symptoms of down’s syndrome | Short saturated small round head, palm crease, furrowed and protruding tongue, upward slanting eyes, low intelligence quotient (IQ), physical, psychomotor and mental retardation |
| Other name of palm crease? | Simian crease |
| What happens in simian crease? | One horizontal palm line instead of 2 |
| Klinefelter’s syndrome is monosomy or trisomy? | Trisomy |
| Klinefelter’s syndrome is on which chromosome? | X trisomy (XXY) |
| Klinefelter’s is in? | Males only |
| Turner’s syndrome is in? | |
| Females only | |
| Condition for klinefelter’s | XXY trisomy |
| Condition for turner’s? | XO |
| Features of klinefelter’s syndrome? | Sterile, gynaemastia (breat development), reduced hair on body, absence of beard and moustache, reduced libido, ratio of arms and legs is 1:2 instead of 2:3 in which legs get longer |
| No. Of barr bodies in turner’s? | 0 |
| Number of barr bodies in klinefelter’s? | 1 |
| Characteristics of turner’s? | Sterile female, webbed neck, underdevelopment of secondary sexual characteristics |
| Conition of turner’s? | XO monosomy |
| Name the autosomal aneuploidic disorders | Down’s syndrome, edward, patau |
| Down’s syndrome is also called? | Mongolism and mongolian idiocy |
| Characteristics of edward syndrome? | Trisomy on 18th chromosome (edward is 18 years old) |
| Characteristics of edward? | Severe cardiovascular disorders, hare lip/clefted upper lip, may or may not have polydactylism, patient usually dies in early age |
| Conditions of patau syndrome? | 13th chromosome trisomy |
| Characteristics of patau syndrome? | Severe cardiovascular disorders, hare lip, essentially polydactyl, dies in early age |
| Change in number of allosomes results in? | Sex- chromosomal aneuploidic disorders |
| Name all disorders due to change in heterosomes | Klinefelter’s, turner’s, super or meta female and male |
| Other names of super male? | Meta male, jacob’s syndrome, criminal syndrome |
| Characteristics of meta female? | Excessively developed feminine characters, enlarged uterus, breasts, ovaries, clitoris of external genitalia may be of the size of penis |
| Is meta female fertile? | Yes |
| Condition of meta female? | XXX trisomy |
| Condition of jacob’s syndrome? | XYY trisomy |
| No. Of barr bodies in criminal syndrome? | 0 |
| No. Of barr bodies in meta female? | 2 |
| Instead of barr body, meta male bas which body? | F-body or F spot. It is stained Y chromosome by a fluorescent quinacrinedye |
| Characteristics of jacob’s syndrome | Excess male characteristics, taller body, enlargement of genital organs m, raised libido, excessive hair on body, aggressive behaviour, fertile, more acne on face |
| Other names of sex chromosomes? | Heterosomes and allosomes |
| In super male, Y chromosome is stained by? | Quinacrinedye |
| Deletion of arm of its translocation results in | Qualitative chromosomal disorders |
| Name the qualitative ch disorders? | Cri-du chat syndrome, Prader-Willi syndrome, philadelphia syndrome |
| Other names of prader willi syndrome? | Angelman syndrome and happy puppet syndrome |
| Other name of philadelphia syndrome | CML, chronic myelogenous leukaemia |
| Condition for cri du chat | Deletion mutation in p/ short arm of chromosome number 5 |
| Condition for happy puppet? | Deletion of q/long arm of chromosome 15 |
| Philadelphia syndrome condition | Reciprocal translocation pf the arm of chromosome number 9 on chromosome number 22, resulting in the formation of oncogene on 22 that produces blood cancer by the age of 21 |
| Cat cry characteristics | Severe cardiovascular disorder, kitten like cry, dies in early age |
| Angelman syndrome characteristics | Ataxia (discoordinated movement of arms), nystagmus (dancing eyeball), frequent burst of laughter |
| What happens in philadelphia syndrome? | Blood cancer by the age of 21 |
| Which is the smallest chromosome of human body? | 22 after y |
| 1st chromosome to be sequenced completely? | 22, all genes were discovered |
| Who sequenced the chromosome completely for the first time? | HUGO/ HGP |
| Human genome carries how many genes? | 30,000 |
| 99.9% nucleotide bases are similar in all people | You’ll leave every one behind one day |
| How many nucleotides are there in one gene on an average? | 3000 |
| Largest human gene? | Dystrophin with 2.4 million bases |
| Longest and shortest chromosome have how many genes? | 1st- 2968 and y- 231 genes |
| Name the first animal animal to be completely sequenced | Caenorhaditis elegans (nematode) |
| First plant to be completey sequenced | Aribidopsis |
| How is malignant tumour or neoplasm formed? | By abnormal mutant daughter cells |
| How are abnormal mutant daughter cells formed? | Failure of mechanism to regulate metabolic activities of a cell |
| Does concerous cell have contact inhibition property? | No |
| What is contact inhibition? | Is a property by virtue of which normal cells’ contact with other cells inhibits their uncontrollable growth |
| Cancer cells do not have property of contact inhibition hence they form tumour | All tumours are not cancerous or malignant but cancer is always a tumour |
| A cancer in which tumour is not formed? | Leukaemia |
| Two types of tumours? | Benign tumour and malignant tumour |
| What is the difference between two types of tumours? | Benign remains confined to their original position and don’t spread causing a little damage while malignant tumour are a mass of poliferating cells. Malignant tumour is non capsulated, so it invades the adjoining tissues and grow to unlimited size, damag |
| Other names of malignant tumours | Neoplastic or tumour cells |
| Last stage of cancer? | Metastasis |
| Branch of science dealing with cancer? | Oncology |
| Cancer causing gene | Oncogene |
| What is oncogene? | Oncogene is a mutant proto-oncogene |
| First oncogene was discovered by | Bishop and varmus, who got nobel prize |
| All carcinogens are mutagens but all mutagens are not carcinogens | |
| First oncogene to be discovered? | Sec gene |
| Who got nobel prize for discovering src gene? | Bishop and varmus |
| Types of carcinogens? | Physical, chemical and biological |
| Cancer causing viruses? | Oncogenic viruses |
| What type of genes do oncogenic viruses have? | Viral oncogene |
| What are cellular or proto oncogene? | Normal cells, which when stimulated convert into oncogene |
| Name physical oncogenes | Alpha, beta particles, gamma rays, x rays and non ionising UV rays and temperature |
| What are the effects of ionising and non ionising radiation? | Are physical carcinogens which cause DNA damage leading to neoplastic transformation |
| What is the effect of temperature as carcinogen? | It becomes carcinogen in developing skin cancer in abdominal region of Kashmiris who use earthen heater |
| A chemical agent causing liver cancer | Afflatoxin |
| Chemical agent causing prostate cancer | Cadmium oxide |
| Agent causing cervical cancer | Diethylstilbestrol, human papilloma virus (HPV) |
| A technique to detect cervical cancer | Pap smear test |
| Pap smear test was discovered by? | A greek scientist papanicolaou |
| Name the chemical carcinogens | HNO2 (nitrous acid), 5-broom uracil, 2-aminopurines, mustard gas, phosgene, asbestos, soot, afflatoxin,cadmium oxide, diethylstilbestrol, polyvinyl chloride, polycyclic aromatic hydrocarbons in tobacco smoke, pollutants in paint and iron mining |
| Nicotine functions as? | Stimulant like acetylcholine |
| What are biological agents | Virus and prions |
| Name 3 biological carcinogens | Epstein- barr virus/ EB virus, human papilloma virus, prions |
| Name the diseases caused by the biological agents | EB virus- burkett’s lymphoma, HPV- cervical cancer, prions- |
| Diseases caused by prions? | Scrapie, BSE bovine spongiform encephalopathy, cruetzfeldt jacob’s disease (CJD), kuru/laughing death |
| Who discovered HPV as a causative agent for cervical cancer? | Herald zur hausen |
| Who and when got nobel prize for discovering HPV? | Herald zur hausen in 2008 |
| What are prions? | Prions are proteinaceous pathogenic particles. Abnormally folded protein. |
| Who discovered prions? | Prusiner |
| Who and when got nobel prize for discovering prions? | Prusiner in 1997 |
| Kuru is observed in? | Tribes of New Guinea and papua island, who ate human brains infected with prion or having cruetzfeldt-jacob’s disease (CJD) |
| Scrapie is observed in? | Sheep and goats |
| Scrapie is characterised by? | Severe itching |
| BSE is seen in | Cows |
| What happens in mad cow disease | Dementia in cow in which brain turns into sponge leading to death |
| CJD is seen in? | Humans |
| CJD characteristics? | Dementia- sponge- death due to eating beef of BSE diseased cows |
| Two types of cancer detection? | Biopsy- living tissue and autopsy/ post-mortem- dead tissue |
| Name the types of biopsy | Fine needle aspiration cytology (FNAC), pap smear test, Radiography (x rays), Computer tomography (CT), MRI (magnetic resonance imaging) |
| What are the techniques used to detect cancer of internal organs? | CT, radiography, MRI |
| CT scanning was developed by? | Allan cormarck and godfrey hounsefield |
| MRi involves the use of? | Strong magnetic field and non ionising radiations |
| Use of mri? | Physiological an pathological changes in living tissues, it can also help to study metabolic activity of the living tissue anf detect minute cancerous tumours in body |
| MRI was developed by? | Bloch and purcell |
| MRi takes the images of? | Water rich tissues |
| Can mri be used for teeth? | Not for teeth bones and cartilage as they are water poor tissues |
| Techniques in molecular biology can detect genes in individuals with inherited suspectibility to certain cancers and be advised to avoid exposure to particular carcinogen | |
| Can antibodies used to diagnose cancer? | Yes, antibodies against certain specific antigens are used to detect certain cancer |
| Name Methods to treat cancer? | Surgery, radiation therapy, immunotherapy, chemotherapy |
| Who gave the term chemotherapy? | Paul ehrlich |
| Chemmotherapeutic drugs? | Vincristine, Vinblastin, Taxol (These are for particular tumours) |
| Father of chemotherapy? | Paul ehrlich |
| What is chemotherapy? | Use of cytotoxic medicines |
| Vinblastin and vincristine are obtained from? | Vinca rosea or catharanthus roseus or sadabahar plant |
| Taxol obtained from? | Taxus baccata |
| What is anticancerous wonder drug | Tacol |
| Most cancers are treated by combination of | Surgery, radiotherapy, chemotherapy |
| How is immune system activated when tumours cells avoid to get detected and destroyed by immune systems | Patients are given substances called biological response modifiers such as alpha interferon |
| Func of alpha interferon? | Activates the immune system and help to destroy the tumour |
| Is MRI harmful? | No it is non invasive and is not involved the use of radiations and instead use magnetic field |
| What is paget’s disease? | 1. Breast cancer 2. Osteitis deformans (genetic recessive chromosome number 18) |
| Characteristics of a cancel cell or neoplastic cell? | Immortal tissue, higher nutritional requirements, number of nucleoli more in nucleus, N:C is more, tendency to stick one on other, uncontrollable growth, no contact inhibition, deposits of igG- russel’s bodies or unna’s particle |
| Based on the tissue involved, name the types of cancer | Carcinoma and sarcoma |
| 80% cancers are? | Carcinoma |
| Carcinoma involves which tissues? | Epitheliul can be ectodermal, mesodermal and endodermal in origin |
| Common sites of carcinoma? | Buccal cavity, lungs, alimentary canal, thyroid, throat, lungs, breast , liver, gall bladders, pancreas, prostate, penis, cervix , retina, skin |
| Cancer of retina is called? | Retinoblastoma |
| Cancer of skin is called? | Melanoma or hippocrate’s tumour |
| Most abundant female cancer in western countries and india | Breast- w and cervical in indian females |
| Sarcoma involves What tissues? | Mesenchyme mesodermal origin |
| Sarcoma is observed in what organs? | Dermis, muscle, bones, granulocytes, blood |
| Name the examples of sarcoma | Kaposi’s sarcoma (dermis), myoma, osteoma, myeloma (granulocytes), leukaemia (blood cancer), lymphoma (hodgkin and non hodgkin both) |
| Burkitt’s lymphoma is hodgkin or non hodgkin? | Non hodgkin |
| Burkitt’s lymphoma is seen in? | Africans |
| Burkitt’s lymphoma co exists with? | Malaria |
| Largest human gene | Dystrophin |
| Number of bases in the largest human gene? | 2.4 million (2400kbp) |
| Mendelian disorders were studied for the first time by? | Garrod |
| Other names of micro mutation? | Gene mutation, point mutation, inborn metabolic error, mendelian disorders |
| What is macro mutation? | Chromosomal mutation (quantitative and qualitative) |
| What is micromutation? | Gene mutation (maybe due to the change in single nucleotide). Cause less harm |
| Micromutation results in | Since each gene codes a single protein (or responsible for the synthesis of an enzyme) to carry out a metabolic reaction, inborn metabolic error occurs |
| What is pedigree analysis? | Analysis of traits in several of generations of a family |
| Pedigree analysis is based on | Heritability of characteristic features |
| Mendelian disorders are recessive or dominant? | Can be eitger of the both |
| Name some autosomal recessice genetical sisorders | Alkaptonuria, cystic fibrosis, riley day syndrome,galactosemia, sickle cell anaemia, colour blindness thalasaemia, hartnup’s disease, albinism, phenylketonuria, retinoblastoma, Wilson’s disease, tay sach’s disease, sever combined immuno deficiency (SCID) |
| Chromosome no. Of alkaptonuria | 3 |
| Cystic fibrosis | 7 |
| Riley day | 9 |
| Galactosemia | 9 |
| Sickle cell anaemia | 11 |
| Hartnup’s disease | 11 |
| Albinism | 11 |
| Phenylketonuria | 12 |
| Retinoblastoma | 13 |
| Wilson’s disease | 13 |
| Tay sach or infantile amourotic idiocy | 15 |
| severe combined immunodeficiency | 20 |
| Alpha thalassaemia | 16 |
| Beta thalassaemia | 11 |
| Delta thalassaemia | 11 |
| Alkaptonuria is also called? | Black urine disease |
| Alkaptonuria is due to the deficiency of? | Homogentistic acid oxidase |
| In alkaptonuria, what accumulates in the body? | Homogentistic acid or alkapton |
| Homogentistic acid is accumulated in? | Cartilages |
| Why is it called black urine disease? | When exposed to light, urine turns black due to the presence of alkapton or homogentistic acid |
| Alkapton is called? | Homogentistic acid |
| Immediate breakdown of tyrosine metabolism is? | Alkapton |
| In which disease sweat, mucous and pancreatic juice becomes viscous and why? | Cystic fibrosis because of impaired secretion of Na+ so the pancreatic duct may get obstructedby viscous juice and person may die during sleep due to suffocation- obstruction of trachea by mucous |
| Riley day syndrome | Role gaale 9 no. Pe, insensitivity to pain |
| Galactosemia | - galactose 1 phosphate uridyl transferase lacks (GALT) - extra galactose not converted into glucose - galactose deposition in brain - patient on milk free dieat - 9 chromosome |
| Sickle cell anaemia | - chromosome no. 11 - three possible genotypes (HbAHbA, HbAHbS, HbSHbS) - only homozygous HbS-HbS diseased - substitution of Glu by Val on 6th position of beta globin chain of haemoglobin molecule due to single base substitution at 6th codon of beta globi |
| Why does sickle cell anaemia patient and sickle cell trait person doesn’t suffer from malaria? | Lack of space, O2 deficiency, K+ ions deficiency |
| Give an example of natural selection | Sickle cell anaemia, it’s TRAIT are common in africa coz it saves people from malignant malaria which is seen frequently. |
| Other names of thalassaemia? | Microcytic anaemia, microcythaemia, cooley’s anaemia, Mediterranean anaemia, thalassaemia major. - it originated in Mediterranean region by deletion mutation |
| Difference between sickle cell and thalassaemia? | Thalassaemia- few globins are synthesised caused due to defects in the synthesis of globin polypeptide- absence or reduced synthesis of one of the globin chains results in the excess of other Sickle cell anaemia- sysnthesis of incorrectly functioning glob |
| Effect of alpha, beta and delta thalassaemia? | Alpha thalassaemia- abnormal dissociation curve, formation of abnormal excess beta chains which form tetramers called Haemoglobin H or Hb H of 4 beta chains Beta thalassaemia- alpha haemoglobin bind to cell membranes of RBC, membrane damage and formation |
| What is alpha thalassaemia? | - involves 2 genes HBA1 and HBA2, at 16 chromosome and 4 allele - decreased production of alpha and inc production of beta chain in adults and gamma in new borns - excess beta forms abnormal tetramers called Haemoglobin H or Hb H of 4 beta chains - abnor |
| Beta thalassaemia? | - HBB gene on chromosome 11 Thalassaemia major or beta not- no beta chains synthesis Beta internedia or beta positive- some beta chains synthesis, normal life - no tetramer formation, RBC membrane destruction and toxic aggregations |
| Delta thalassaemia | - 3% Haemoglobin are there with alpha and delta chains - just like beta, mutations occur affecting ability of this gene to produce delta chains, get reduced - haemolytic anaemia |
| What is hartnup’s disease | - chromosome number 11 - nephrons fail to reabsorb amino acid tryptophan from urine - tryptophan- inherent source of Vit B5 - deficiency of vit causing PEllagra |
| What is albinism? | - chromosome no. 11 - tyrosinase is lacking - tyrosin not converted into dopa and melanin - lack of pigmentation - patient called albino - patient also suffers from photophobia |
| What is phenylketonuria or ketonuric idiocy or PKU? | - chromosome 12 - lacking phenylalanine hydroxylase - phenylalanine not converted in tyrosine - tyrosine accumulation in blood and brain in the form of phenylpyruvic acid causing DEMENTIA and IDIOCY - phenyl pyruvic acid in urine- turning FeCl3 blue - al |
| What is idiocy? | Mental retardation |
| What is retinoblastoma | - chromosome number 13 - cancerous tumour in retina |
| What is Wilson’s disease | - chromosome 13 - lack of plasma protein ceruloplasmin Ceruloplasmin helps in copper transportation in conjugated state - deposition of Cu in liver and brain causing hepatolenticular degeneration |
| What is the characteristic of Wilson’s? | Brown Kayser fleischer ring in sclera |
| Wilson’s disease results in? | Hepatolenticular degeneration |
| Tay sachs disease is also called? | Infantile amourotic idiocy - chromosome 15 - enzyme beta N acetyl hexosaminidase A (HEXA A) lacks - intermediate product of fatty acid metabolism are deposited in brain causing dementia - in jews |
| What is SCiD? | - severe combined immunodeficiency - chromosome 20 - enzyme adenosine deaminase (ADA) lacks - adenosine not broken during purine metabolism of WBC - destruction of WBC and hence severe immunodeficiency - boy in the bubble- david vetter- 12 years |
| First treatment of SCID? | Through gene therapy - ashantidesliva in 1990- patient - doctor- french anderson |
| Name the diseases caused by parasitic protozoan? | |
| What is pre patent period? | Time of period between the day of infection to the day of appearance of metacryptozoites in blood |
| Ppre patent period for plasmodium vivax and malarie | Vivax- 8-10 days Malarie- 10-12 days |
| Infective stage of plasmodium in human and anopheles? | |
| Name the autosomal dominant genetic disorders | Hutchinson gliford progeria (HGP) syndrome, huntington’s chorae/ St. vitus dance/ mount’s syndrome, ehler danlos syndrome, tylosis, myotonic dystrophy (5) |
| Hutchinson’s glifford progeria syndrome | Chromosome 1, faster ageing, dies as old by 15 yrs age, always a fresh case |
| Huntington’s chorae also called? | St. Vitus dance, mount’s syndrome |
| Mount’s syndrome | 4 chromosome, - deficiency of GABA (gamma aminobutyric acid which inhibitory neurostransmitter) in brain - ataxia/ bizzare grimacing by 50 yrs or earlier - dies in advanced stage of disease |
| Ehler danlos syndrome | -rubber man syndrome - 5 chromosome - abnormallaity in connective tissue - collagen protein not synthesid properly - hyperstretchibility of skin and heper mobility of joints |
| Tylosis | Chromosome 17 Thickening of skin in palm and sole |
| Myotonic dystrophy | -effects several systems in the body -muscular dystrophy, cataract, heart conduction defects, hotmonal disorders and MYOTONIA |
| What is myotonia | Delayed relaxation or prolonged contraction of skeletal muscles |
| Name other autosomal dominant disorders | Polydactylism, syndactilsm, brachydactylism, diabetes mellitus, hypertension, migraine, cataract, deafness, blindness, squint, clefted upper lip (11) |
| Ability to taste PTC or phenylthiocarbamide is? | Dominant |
| Dominant blood groups? | A, B, AB, Rh |
| Homozygous chromosome ? | Same trait and same character, same loci on homologous chromosome |
| Heterozygous | Same character, different trait, same loci on homologous chromosome |
| P arm of X chromosome is longer than p arm of Ychromosome. - have genes for different character - single copy : hemizygous - non homologous | |
| Q arm of Y and X is same - two copies of same character -homozygous or heterozygous - q of X and Y are homologous in both sexes | |
| X chromosome was discovered by and in? | Henking as ‘x body’ in 1891 |
| What is X linked inheritance? | Inheritance of a gene present on p arm of X chromosome maybe dominant or recessive |
| X linked recessive disorders are commonly seen in? | Males becoz of hemizygous condition and in female only in homozygous condition x |
| What is digenic genes? | Which show criss cross inheritance Means gene is expressed only in homozygous |
| Name the X linked recessive disorders | Haemophilia, colourblindness, myopia/short sightedness, G-6PD deficiency, duchenne’s muscular dystrophy, lesch nyhan syndrome (6) |
| Haemophilia was studied for the first time by? | John otto |
| Pedigree analysis or geneology of haemophilia was carried first time by? | Haldane |
| Haemophilia | - a single protein of cascade of proteins involved in blood clotting is not synthesised - blood clotting factor 8 causes haemophilia A - ‘“ factor 9 - haemophilia B - delayed clotting of blood - gene in queen victoria’s family - royal or bleeder’s diseas |
| How many of males and females suffer from colourblindness? | Female- 0.4% Male- 8% Red and green - gene for normal vision is dominant |
| All recessive c linked disorders show criss cross inherited | |
| G-6PD deficiency? | Lack of glucose 6 phosphate dehydrogenase enzyme - haemolytic anaemia due to accumulation of H2O2 - pateint does not suffer from malaria |
| H2O2 in RBC is converted into water by? | Glutathione peroxide and in turn glutathione peroxide gets oxidised which is to be reduced by glutathione reductase - glutathione reductase converts NADPH2 into NADP and NADP converts glucose 6 phosphate into phosphogluconic acid by glucose 6 phosphate d |
| Duchenne’s muscular dystrophy | Disorder of striated muscles - dystrophin protein not synthesised - paralysis of these muscles - patient dies by 21 yrs |
| Lesch nyhan syndrome | Self destructive disorder - chees his lips and fingers in anger to gain sympathy |
| X linked dominant is seen in? | Equal proportion in both the sexes. Problem is aggravated in female if it’s homozygous |
| X linked dominant disorder? | Defected enamel |
| Holandric genes? | |
| Genes are passed only from dad to son (y ch) | |
| Y linked inheritance | - genes located on p arm of y - no cross over with x - holandric genes - p arm of y also has SRY gene |
| Why does y not cross over X chromosome? | Hemizygous condition |
| Name a few y linked disorders | Generalized or localized hypertrivhosie |
| Where is sry gene located | On p arm of Y chromosome which codes the protein TDF (testes determining factor) responsible for male characteristics sexual |
| What will happen if sry genevis absent on Y chromosome? | - sry gene is responsible for maleness and not Y chromosome - patient is genotypically male but has feminine characteristics - if sry comes to c chromosome, she carries male characteristics |
| Name the theories of sex determination and given by? | 1. Heterogametic theory by henking and Mcclung 2. Hormonal theory by crews (hen) and lillie ( freemartin) 3. Gene balance theory ( CB bridges) 4. Environmental theory by baltzer |
| Heterogametic theory | Heterogametic partner determines the sex of child - given by mc clung and hencking |
| Two types of male hetergamy? | 1. XO (male) and female - XX {grasshopper} 2. XX (female) and XY (male) {drosophila and man and other mammals} Although drosophila carries XX and XY chromosomes but sex is not determined by x or y since gene for maleness is on autosome |
| In large number of jnsects which method of hetergamy is observed? | XO male heterogamy, that is all eggs carry an additional X besides autosomes whereas in sperms, half carry X and O other half (Grasshopper) no. Of chromosomes are not same in male and female |
| Hetergametic female is observed in? | Birds where there is Z and W in place of x and y. And total number of chromosomes is same in both sexes |
| Heyerogametic female? | Ova produce two types of sex chromosomes- Z and W. it is of two type- 1. ZZ (male) and ZO (female)- butterfly and moth 2. ZZ (male) and ZW (female)- fishes, amphibians, reptiles, birds and most animals |
| Hormonal theory of sex determination | Study of crews- hen transformed into cock Study of lillie- birth of freemartin which is a female and male cow twin where testosterone released in male calf is reached to female calf embryo through common blood circulation of placenta and hence has phenoty |
| In hormonal theory, there’s a sex reversal which is seen phenotypically but not genotypically | |
| Gene balance theory | By CG bridges - theory is based upon the ratio of x chromosome to no. Of sets of autosomal chromosomes will actually determine the sex - genes for femaleness is located on X but for maleness it is on autosome - in drosophila melanogaster |
| What is gyandomorph | These are sex mosaic drosophila, have half body male (X/AA) and other half female (X/A) - gyandomorph is different from intersex |
| Environmental theory? | Given by baltzer Based on development of bonellia and credipula |
| Tell about bonellia | - it is a polychaete - has microscopic male living like a parasite inside female body - fertilisation takes place within female body - trochophore larva comes out of her body - larva development in water- develops into female - in proboscis of mother- fem |
| Sex determination in credipula | - is a marine molluscan - releases sperms and leads male life first half of lifetime and in second is transformed into female to produce ova - sex reversal in due to environmental factors |
| What is human karyotype | Whole chromosomal makeup of human population Studied by tjio and levan for the first time Divided into seven groups |
| Human karyotype is divided into how many and on what basis? | Seven groups on the basis of structure of chromosomes and the position of centromere as per denvor and London conferences (3273322) abcdefg |
| Give an example of sex influenced inheritance | Gene for sex influenced inheritance is located on autosome but is expressed only in presence of hormone testosterone in both sexes - pattern baldness or androgenic alopecia |
| Another name of pattern baldness and how is it caused? | Androgenic alopecia. - caused due to sex influenced inheritance through autosomal DOMINANT gene, sufficient to express in male but in female , it can be expressed in homozygous. |
| Genes for sex influenced and sex limited inheritance may be present genotypically in both but are expressed in different manner due to testosterone and estrogen | |
| X chromosome was discovered by? | Henking |
| Name the helminth disease? | Taeniasis (pork and beef), cysticercosis, schistosomia/ bliharzia (3) |
| Causative helminths of helminth diseases? | 1. Pork taeniasis - taenia solium 2. Beef taeniasis- taenia saginata 3. Cysticercosis- cystercercus larva (bladder worm) 4. Schistosomiasis/ bilharziasis- schistoma/ bilharzia (blood fluke) |
| Name the organ affected by platyhelminth disease | Taeniasis- small intestine Cystercercosis- muscular limb, back, chest, hips, tongue, BRAIN Schistosomiasis- blood vessels of urninary bladder |
| Vector of platyhelminth diseases | Pork taeniasis- undercooked measly (infected by cystercerccus larva) pork Beef taeniasis- undercooked measly beef Cystercercosis- infected pork or beef Schistosomiasis/ bilharziasis- larva cercaria penetrates through skin when exposed to contaminated wate |
| Symptoms of taeniasis | Polyphagia, salivation, gritting of teaath at night,!IBS, abdominal pain, enuresis |
| Symptoms of cystercercosis | Painful movement of tongue, limbs etc (affected part), Man is regarded to be dead end since all the larva get calcified and degenerated after 3 months even if it is not cuted |
| Symptoms of schistosomiasis/ bilharziasis | Lower abdominal pain, lose of control of urination |
| Grasshopper male and female has how many chromosome | Male- 23 Female- 24 |
| Human genome project was officially started in? | 1990 |
| Pedigree Amanda is applicable for? |
Created by:
Jasmeetkamdar
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