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Genetics & defects

PHRM 6101

Genetics and Gene Genetics: the study of biologic heredity .. Gene: basic unit of heredity
Genomics and Genome Genomics: The field of genetics concerned with the structural and functional studies of a genome .. Genome: DNA representing all of the genes for a given species
Genotype Vs Phenotype Genotype (what they have) genetic makeup of the organism .. Phenotype(what they demonstrate) the observable appearance of the genetics of an organism
Mitosis vs Meiosis (I & II) purpose of Mitoses is from 1 cell ---> 2 DIPLOID cells and it produces cells that are genetically identical .... Purpose of Meioses if from 1 Cell ---> 4 HAPLOID cells and it produces cell that are NOT genetically identical
What are the basic stages of cell cycle? 1. Interphase : it has G0/G1 (Gap phases), S (DNA synthesis), and G2 phase (accumulation of RNA and proteins necessary for cell division) 2. M phase: have prophase, metaphase, anaphase, and Telophase 3. Cytokinesis : chromosomes seperate and cell divides
Stages of the M phase (mitotic) Prophase: DNA condensation and nuclear membrane dissolution .. Metaphase: Microtubules align chromosomes along center of the cell .. Anaphase: Pairs of chromosomes seperate .. Telophase: New nuclear membrane form
Chromosomes Theory of inheritance 5. during formation of gametes, different types of chromosomes segregate independently 6. Each parent gives 1 set of chromosomes to it's offspring 1. Chromosomes contains genetic material 2. they are passed from parent to offsprings 3. The nuclei of eukaryotic cells contains chromosomes that are homologous pairs 4.during meiosis, Each homologous segregate into 1 of 2 daughter nuclei
Are gametes formed by mitosis or meiosis? Meiosis .. all other cells are formed via mitosis
What happens in late prohphase I? Crossing over takes place, and the nuclear membrane breaks down
What's the difference between Metaphase of Mitosis and Metaphase I of Meiosis? *** homologous pairs of chromosomes line up along the metaphase plate. Sister chromatids aligned on same side of metaphase plate, opposite side of homologous pair Metaphase of Mitosis: chromosomes line up on the metaphase plate and sister chromatids are on opposite sides of the metaphase plate .......................... go back to the front for Metaphase I of Meiosis:
What are somatic cells? diploid cells that have 46 chromosomes
How many chromosomes do gametes have? Haploid .. 23 chromosomes
What is the structure of a chromosome short arm -p and long arm q
what is a centromere? region of attachment of sister chromatids
what is a Telomere? region containing multiple base pairs. shortens with each cell division
What are autosomes The first 22 of 23 pairs of chromosomes in males and females. the 2 members are identical and said to be homologous
Define a mutation any inherited alteration of genetic material
What is base pair substitution one base pair substituted for another, may result in changes in amino acids sequence
What is silent substitution Does not result in an amino acid change
TRUE/FALSE: mutation in somatic cells are not transmitted to to offspring? TRUE
TRUE/FALSE: mutation in gemetes are transmitted to offsprings TRUE
What is a mutagen an agents known to increase frequency of mutation like radiations and chemicals
What is point mutation and give an example A single nucleotide base-pair change in DNA .. example is sickle cell anemia
What is a silent Mutation A DNA sequence change that does not change the amino acid sequence of a gene
what is a Missense mutation A type of mutation that result in a single amino acid change in the translated gene product
Nonsense mutation A type of mutation where mRNA stop codon is produced (resulting in premature termination of the protein sequence) or removed ( resulting in elongated protein sequence)
Frameshift mutation An alteration of DNA in which an addition of deletion of a base pair occurs. it results in change in the entire reading frame
What's the consequence of a mutation Gain of function: associated with dominant disorder, and production of new protein product .. Loss of function: associated with recessive disorders, and loss of 50% of protein products
what are Euploid cells Have multiple of the normal number of chromosomes. Haploids and diploids are euploid forms
Polyploid When a euploid cell have more than the diploid number. Ex, Triploidy: a zygotes having 69 chromosomes .. and tetrapolidy: 4 copies of each 92 total. Fetuses of tri and tetra don't survive
Disnjunction Normal seperation of chromosomes during cell division
Nondisjuction Usually the cause of aneuploidy, it is defined as the failure of homologous chromosomes or sister chromatids to seperate normally during meiosis or mitosis
Aneuploidy opposite of euploidy .. a somatic cell that does not contain multiple of 23 chromosomes
What is Trisomic (trisomy) A cell containing 3 copies of chromosomes
What is Monosomy the presence of only one copy of any chromosome .. it's often fatal .. infants can survive with trisomy .. better have extra than less
Down syndrome is an example of which type of chromosome abnormality? Euploid or aneuploidy? Aneuploidy
Describe people with down syndrom? Mentally retarded, lower nasal bridge, epicanthal folds, protruding tongue, poor muscle tone
Partial Trisomy Only an extra portion of a chromosome is present in each cell
Chromosome moasics Trisomies occurring only in some cells of the body
Trisomy X, and symptoms is a females with 3 X chromosomes termed Metafemale. Symptoms: Sterility, Menstrual irregularity and mental retardation .. symptoms worsen with each addition of X
Turner syndrome Females with 1 X
Characteristics of Turner syndrom Absence of ovaries .. short stature .. webbing of the neck .. edema .. underdeveloped breast, wide nipples .. usually inherited from the Mother.
Klinefelter syndrom individuals with at least 2 Xs and 1 Y chromosomes
Klinefelter syndrom characteristics Male appearance .. develop females like breasts .. small testes .. long limbs .. spares body hair ... abnormalities increase with addition of each X
What are alteration in chromosomes structure Deletion .. Inversion .. Translocation .. Ring chromosomes .. Chromosomes breakage
What is Deletion of chromosomes: Loss of DNA sequence of DNA from a chromosome
What is inversion of chromosomes chromosomes rearrangement in which a segment of a chromosome is reversed end to end .. ex abCDEfg becomes abEDCfg
what is translocation of chromosomes Transfer of one chromosomes segment to another
Ring chromosome structurally abnormal chromosome in which the telomere is deleted and broken arm has joined
Chromosome breakage when a chromosome break, a physiologic mechanism usually repair the break. but it heals in a way that alters the structure of the chromosomes ,, agents of chromosome breakage are ionization agents and chemicals and viruses
What are fragile sites areas on chromosomes that develop distinctive breaks or gaps when cells are cultured. Has no apparent relationship to disease
Fragile X syndrom site on long arm of X chromosome associated with mental retardation .. second in occurrence to down syndrom .. higher in males because they only have 1 X
What is Locus Location occupied by a gene or chromosome
What is an Allele? Alternate version of gene at a locus
What is Polymorphism Locus that has 2 or more alleles
Can alleles be codominants? Yes
What is a carrier It has the disease gene but phenotypically normal .. ex sickle disease Ss = Carrier .. ss = has the disease
What is Recurrence risk the probability that parents of a child with a genetic disease will have yet another with the same disease
What is autosomal dominant disorder abnormal allele is dominant, normal allele is recessive, and the gene exist on pairs of autosomes
What are the characteristics of autosomal dominant disorder 1. condition is expressed equally in males and females 2. about 1/2 of children of an affected heterzygous individual will express the condition 3. no generation skipping
What is expressivity It's the variation in a phenotype associated with a particular genotype. can be caused by modifier genes .. example: Von Recklinghausen disease
What are the characteristics of autosomal recessive disorder 1. Abnormal allele is recessive and a person must be homozygous to express the disease 2. The treat usually appears in the children, not the parents, and it effects the genders = 3. Generation skipping may be present 4. Consanguinity may be present
X-linked disorders usually expressed by _____ because _____ have another X chromosomes to mask the abnormal allele Male, Female
X linked recessive disorder characteristics 1. male most common effected 2. Unaffected carrier females 3. Pedigree analysis : generation skipping often present and no father-son transmission
What is Hemophilia Bleeding disorder resulting from congenital deficiency of coagulation factors
Created by: amiqnais



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