印度X染色体连锁的葡萄糖-6-磷酸脱氢酶（G6PD）基因座的限制性片段长度多态性（RFLP）
Restriction fragment length polymorphism (RFLP) of the X chromosome linked glucose-6-phosphate dehydrogenase (G6PD) locus in India.
作者信息
Chalvam Rati, Colah Roshan B, Mohanty Dipika, Ghosh Kanjaksha, Mukherjee Malay B
机构信息
National Institute of Immunohaematology, K.E.M. Hospital Campus, Parel, Mumbai, India.
出版信息
Ann Hum Biol. 2011 Jan;38(1):106-9. doi: 10.3109/03014460.2010.488251. Epub 2010 Jun 9.
STUDY
Haplotypes linked to glucose-6-phosphate dehydrogenase (G6PD) genotypes were defined by studying six intragenic restriction fragment length polymorphisms (RFLPs) in 141 G6PD deficient and 252 normal chromosomes.
RESULTS
Only four of the 64 possible haplotypes were observed, indicating marked linkage disequilibrium. All the G6PD deficient mutations were associated with either haplotype I or VII, which are similar to the common G6PD B variant observed in the present study except the G6PD Namoru mutation which corresponded to mainly haplotype VIIa where a Nla III restriction site was created due to this mutation.
CONCLUSION
The limited number and low haplotype diversity probably indicates a strong selective pressure on the G6PD gene.
研究
通过研究141条葡萄糖-6-磷酸脱氢酶（G6PD）缺乏染色体和252条正常染色体中的6种基因内限制性片段长度多态性（RFLP），确定了与G6PD基因型相关的单倍型。
结果
在64种可能的单倍型中仅观察到4种，表明存在明显的连锁不平衡。所有G6PD缺乏突变均与单倍型I或VII相关，这两种单倍型与本研究中观察到的常见G6PD B变体相似，但G6PD那莫鲁突变主要对应单倍型VIIa，该突变导致产生了一个Nla III限制性位点。
结论
单倍型数量有限且多样性较低可能表明G6PD基因受到强大的选择压力。
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