不同人群中绿色觉基因常见多态的差别分布

为了解视网膜色素变性患者与正常人群中绿色觉基因外显子 5常见多态在正常色视人群中的分布 ,收集了 10 8例正常色视男性的白细胞基因组DNA 其中视网膜色素变性 (RP)男性 6 1名、非RP正常色视男性 4 7名 ],PCR扩增每例绿色觉基因外显子 5 ,异源双链_SSCP分析PCR产物。用已知序列的绿色觉基因产物作标准 ,确定待检个体绿色觉基因外显子 5的组成。结果表明 ,就基因频率而言 (g p之比 ) ,RP患者为 2 9,而非RP正常色视者为 4 0 ;就基因型频率而言 (g gp p之比 ) ,RP患者为 5 4 1 3 1,非RP正常色视者为 5 3 0 4 1。在RP患者与非RP患者这两种正常色视的人群中 ,绿色觉基因外显子 5常见多态存在着偏差分布

Biased Distribution of a Common Polymorphism of Green Pigment Gene in Different Trichromats

To understand the distribution of a common exon 5 polymorphism of green pigment gene in trichromats between the patients with retinitis pigmentosa (RP) and the normals without RP, the genomic DNA of leukocyte was prepared from 108 male trichromats. Sixteen_one of them were with RP and 47 were normals. Exon 5 of green pigment gene of each trichromat was analysed by PCR_heteroduplex_SSCP method. The component of green pigment gene was determined by comparison with the patterns of known sequence. It was 2 9 in the RP trichromats but 4 0 in the non_RP trichromats for the gene frequency(the ratio of g to p). Moreover, it was 5.4/1.3/1.0 in the RP trichromats but 5.3/0.4/1.0 in the non_RP trichromats for the genotype frequency (the ratio of g, gp to p). There is a biased distribution of the common exon 5 polymorphism of green pigment gene in the two groups of trichromats(RP trichromats and non_RP trichromats).