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Chen et al., "A three-single-nucleotide polymorphism haplotype in intron 1 of OCA2 explains most human eye-color variation," American Journal of Human Genetics, vol.
Previously, several researchers have performed extensive genetic studies on large consanguineous Pakistani families and reported mutations in TYR, TYRP1, OCA2 and SLC45A2 genes.5-7 The TYR gene analyses in these studies have observed that p.Gly419Arg mutation has the most common incidence among Pakistani population.8-10 Recently, Shah and his colleagues have reported a founder mutation (p.Arg77Gln) in the TYR gene.7 The clinical data reported in these articles are almost consistent with our findings.
Prevalence rate of different genetic forms of OCA among the various world populations has determined OCA1 as the most widespread type of loci mapped among the Caucasian patients followed by OCA2 OCA4 and OCA3 respectively3.
There are four major forms: (i) OCA1 (mutated tyrosinase (TYR) gene);  (ii) OCA2 (mutated OCA2 gene);  (iii) OCA3 (mutated tyrosinase-related protein 1 (TYRP1) gene);  and (iv) OCA4 (mutated solute carrier family 45, member 2 (SLC45A2) gene).
Condition Name Gene Location Inheritance Oculocutaneous OCA1 TYR 11q14.3 AR albinism OCA2 15q12--q13 AR OCA3 TYRP1 9p23 AR OCA4 MATP 5p13.2 AR Ocular albinism OA1 GPR143 Xp22.2 XL Aniridia AN2 PAX6 11p13 AD CSNB CSNB1 NYX Xp11.4 XL CSNB CSNB2 CACNA1F Xp11.23 XL Rod monochromacy ACHM2 CNGA3 2q11.2 AR Cone dystrophy 4 COD4 PDE6C 10q23.33 AR Blue cone monochromacy COD5 OPN1L/MW Xq28 XL Optic nerve hypoplasia PAX6 11p13 AD (septo-optic dysplasia) HESX1 3p14.3 AR Corneal opacity PAX6 11p13 AD PITX2 4q25 AD FOXC1 6p25.3 AD Congenital cataract PAX6 11p13 AD Leber's congenital LCA1- Various Various AD/R amaurosis 15 Idiopathic NYS1 FRMD7 Xq26.2 XL NYS5 Xp11.4 XL NYS2 6p12 AD NYS3 7p11.2 AD 18q23 AD Figure 3 Some associations of infantile nystagmus, from Lorenz and Gampe.
Genetik olarak heterojen olarak bu hastalik baslica iki grupta toplanabilir: beyaz irkta okulokutanoz albinizmin %40'indan sorumlu olan OCA1 (tip 1) ve siyah itkta %50'sinden sorumlu olan OCA2 (tip 2).
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- Oca (disambiguation)
- Oca (disambiguation)