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| Description: TABLE 4.1 Some Human Traits Controlled by Single Genes AUTOSOMAL RECESSIVE TRAITS Trait Phenotype MIM Number Albinism Absence of pigment in skin, eyes, hair 203100 Ataxia telangiectaSia 3rogressive degeneration of nervous system 208900 Bloom syndrome Dwarfism; skin rash; increased cancer rate 210900 Cystic fibrosis Mucus production that blocks ducts of certain glands, 219700 ung passages; often fatal by early adulthood Fanconi anemia Slow growth; heart defects; high rate of leukemia 227650 Galactosemia Accumulation of galactose in liver; mental retardation 230400 Phenylketonuria Excess accumulation of phenylalanine in blood; mental 261600 retardation Sickle cell anemia Abnormal hemoglobin, blood vessel blockage; early 141900 death Thalassemia mproper hemoglobin production; symptoms range 141900/ rom mild to fatal 141800 Xeroderma Lack of DNA repair enzymes, sensitivity to UV light; skin 278700 pigmentosum cancer; early death Tay-Sacns disease mproper metabolism of gangliosides in nerve cells; 272800 early death AUTOSOMAL DOMINANT TRAITS Trait Phenotype MIM Number Achondroplasia )warfism assooated With defects in growth regions of 100800 orig bones Brachydactyly Malformed hands with shortened fingers 112500 Camptodactyly Stiff, permanently bent little fingers 114200 Crouzon syndrome Defective development of midfacral region, protruding 123500 eyes, hook nose Ehlers-Danlos Connective tissue disorder, elastic skin, loose joints 130000 syndrome Familial Elevated levels of cholesterol; predisposes to plaque 144010 hypercnolesterolemi a formation, cardiac disease; may be most prevalent genetic disease Adult polycystic Formation of cysts in kidneys; leads to hypertension, 173900 kidney disease kidney failure Huntington disease Progressive degeneration of nervous system; dementia; 143100 early death Marfan syndrome Connective tissue defect; death by aortic rupture 154700 Nail-patella syndrome Absence of nails, kneecaps Picture Stats: Views: 207 Filesize: 413.22kB Height: 1500 Width: 1085 Source: https://biology-forums.com/index.php?action=gallery;sa=view;id=44143 |