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目的确定中国北方常染色体显性遗传性白内障(ADCC)一家系的致病基因。方法收集 ADCC 一家系资料,提取血液白细胞 DNA,运用微卫星位点多态性连锁分析,对提示连锁的染色体区域内的候选基因测序,寻找突变。结果该家系致病基因定位在2q33.3-34区域内,对其候选基因γ晶体蛋白基因簇各基因进行测序,发现γD晶体蛋白基因第二外显子有一个杂合子的错义突变(109C→A)与家系患者共分离,此突变可导致其编码的第36位精氨酸被丝氨酸取代。结论此γ晶体蛋白基因突变引起该家系核性结晶样先天性白内障,是由γD晶体蛋白基因109C→A(R36S)突变引起的。(中华眼科杂志,2006,42:913-917)
Objective To determine the causative genes of a family with autosomal dominant cataract (ADCC) in northern China. Methods The ADCC pedigree data was collected and the blood leukocyte DNA was extracted. Using the microsatellite loci polymorphism linkage analysis, the candidate genes in the chromosome region suggesting the linkage were sequenced to find the mutation. Results The causative gene of this family was located in the region of 2q33.3-34. Sequencing of the gene of the candidate gene γ crystal gene cluster showed that there was a heterozygous missense mutation in the second exon of γD crystal protein gene (109C → A) Co-segregation with family-based patients results in the mutation of serine at position 36 of its encoded arginine. Conclusion The mutation of γ gene causes the nucleus-like congenital cataract in this family. It is caused by the mutation of γD crystal protein gene 109C → A (R36S). (Chinese Journal of Ophthalmology, 2006,42: 913-917)