Karyotypes and Inheritance of Chromosomes
Human Genome
| CHROMOSOME | GENE | LOCATION | COMMENT |
|---|---|---|---|
| 1 (11700) | Rh blood type Rh+, Rh- | 1p36 Rh- (AR) | 85% Rh+ phenotype |
| 2 (120180) | Ehler-Danlos E=affected e=not affected |
2q31 (AD) | Fragile, hyperflex skin 1/150,000 |
| 3 ** (with 6) | Acne (2 Locus model) N=active allele for acne n=inactive | anywhere (MF) | NNNN = severe NNNn = moderate NNnn = mild Nnnn = very mild nnnn = none |
| 4 (143100) | Huntington's disease H=Huntington's h= inactive | 4p16 (AD) | mid-life neurologic decline 1/20,000 |
| 6 **(with 3) | Acne N'=active n'=inactive | ||
| 6 (222100) | Diabetes mellitus, insulin dependent D=normal d=afflicted | 6p21 (AR) | |
| 7 (219700) | Cystic Fibrosis C=normal c=cystic fibrosis |
7q31 (AR) | 1/20 Caucasian carriers |
| 9 | ABO blood group IA, IB, i | 9q34 (AD), (CoD) |
|
| 9 (230400) | Galactosemia G=normal g=galactosemia |
9p13 (AR) | missing enzyme |
| 10 ** | Short/long index finger S=short S'=long male - dominant S'S'=long SS'=short SS=short female-recessive S'S=long SS'=long SS=short |
anywhere (sex-influenced) | short long |
| 11 (141900) | Sickle Cell hemoglobin HbA=normal HbS=sickle | 11p15 (AR) | HbAHbS=sickle cell trait HbSHbS=sickle cell anemia |
| 12 (261600) | Phenylketonuria P = normal p = PKU |
12p24 (AR) | Newborn screening |
| 13 ** (see 14, 16, 18) | Tallness A = active a = inactive | ||
| 14 ** | Tallness B = active b = inactive | ||
| 15 (272800) | Tay Sachs T = normal t = Tay Sachs |
15q23 (AR) | death usually within 2 years |
| 16 ** | Tallness C = active c = inactive | ||
| 17 (162200) | Marfans M = Marfans m = normal | 17q21
(AD) | 20,000 affected in USA 15% new mutation |
| 17 (162200) | Neurofibromatosis N = normal n = Neurofibromatosis | 17q11 (AR) | Elephant Man |
| 18 ** | Tallness D = active d = inactive | ||
| 18 (137589) | Tourette Syndrome T = Normal t = Tourette |
18q22 (AR) | |
| 19 (143890) | Familial Hypercholesterolemia F = affected f = normal | 19p16 (AD) | 300-500 Cholesterol levels |
| X (303700) | Xcb, XN = Colorblindness / Normal | Xq28 (XLR) | 8% Caucasian males |
| X (306700) | Xh, XN = Hemophilia / Normal | Xq28 (XLR) | |
| X (310200) | Xdmd, XN = Duchene Muscular Dystrophy / Normal |
Xp21 (XLR) | |
Y | Testis determining factor (Tdf) | maleness |
** Hypothetical