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Human Genome
Basic Human Heredity, Chromosomes, Molecular Genetics, and Genetic Diseases
| Question | Answer |
|---|---|
| Karyotype | Picture of chromosomes arranged in pairs |
| Sex Chromosomes | Two chromosomes that determine sex |
| Autosomes | All other 44 human chromosomes that do all exept determine sex |
| Pedigree | Relationships within a family |
| Rh Alleles | Determine whether blood type is positive or negative |
| Rh+ | Dominant Rh allele |
| A/B/AB | Dominant alleles for blood type |
| O | Reccessive blood type, has no antigens. Universal blood donor |
| PKU | Reccessive disorder in autosomes in which the individual does not have the needed enzyme to break down phenylalanine. This can lead to mental retardation |
| Tay-Sachs | Reccessive disorder in autosomes in which lipids accumulate in the brain |
| Achondroplasia | Dwarfism. Caused by defect of a dominant allele on an autosome |
| Huntington | caused by defect of dominant allele on an autosome. Leads to loss of muscle control and mental function |
| Cystic Fibrosis | Caused by deletion of 3 bases in the middle of a protein sequence.This causes inability to transport chlorine ions. This is a defect in a dominant allele on an autosome. |
| Sickle Cell | Defect in dominant allele found on an autosome. Causes sickling of red blood cells |
| Lou Gehrig's (ALS) | Rearrangement on chromosome 21. Causes loss of muscle control |
| Sex-Linked Genes | Genes located on sex chromosomes |
| Colorblindness | Most common in males because they are XY and X is dominant, where a woman (XX) would have to be homozygous for it. |
| Hemophilia | Sex-linked disorder. reccessive allele in one of the 2 important genes on X that help control blood clotting. The protein neccessary for blood clotting is missing |
| Duchenne Muscular Dystrophy | Sex-linked disorderthat results in loss of skeletal muscle. Caused by defective version of gene that codes for a muscle protein. |
| Barr Bodies | A turned off X chromosome that forms a dense region in the nuleus |
| Nondisjunction | Abnormal numbers of chromosomes in a gamete |
| Down Syndrome | Disorder caused by trisomy (three bodies)of chromosome 21. Causes extreme mental retardation. |
| Turner's Syndrome | dysfunction in sex chromosomes. A female with turner's only recieves one X, making her sterile. |
| Klinefelter's Syndrome | Sex chromosome disorder. Extra X chromosomes. |
| DNA Fingerprinting | Identification of individuals through strands of DNA that have little or no function. |
| Human Genome Project | effort to analyze the human DNA sequence |
| Gene Therapy | Absent or faulty gene replaced by a normal working one |
Created by:
rachael94
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