Genetics
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| Define autosomal set. | A combination of chromosomes consisting of one each of a homologous pair in a diploid species, the non-sex chromosomes (22 pairs). | |
| Define karyotype. | Genetic study where chromosome pairs are matched, determines an individual’s chromosomal pattern. | |
| Define genotype. | Actual genetic composition. | |
| Define phenotype. | Individual’s external appearance, how the gene is expressed. | |
| Define autosomal recessive inheritance. | The effect of a gene is not apparent is only one is present. | |
| Give examples of autosomal recessive anomalies. | PKU, glactosemia, homocysturia, Maple Syrup disease, SMA, cystic fibrosis. | |
| Define autosomal dominant inheritance. | Effect of gene is apparent is one is present. | |
| Give examples of autosomal dominant anomalies. | Marfan’s syndrome, neurofibromatosis, Huntington’s disease, glaucoma, polydactyly. | |
| Define sex linked recessive inheritance. | Most affected are males, girls are carriers. | |
| Give examples of sex linked recessive anomalies. | Color blindness, hemophilia, muscular dystrophy. | |
| Define polygenic inheritance. | Unknown cause, most common form. | |
| Give examples of polygenic anomalies. | Spina bifida, cleft lip/palate, diabetes, hypertension. | |
| Define mutation. | A mix-up of protein that compromises the genetic material. | |
| Give examples of genetic mutation. | Turner syndrome (only 1 X), Klinefelter (XXY). | |
| Define translocation. | Two chromosomes split and do not recombine correctly. | |
| Define trisomy. | An abnormal amount of chromosomal material which results in additional chromosomes beyond the normal pair (Trisomy 21 – Down syndrome). |
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