先天性眼外肌纤维化综合征I型一家系KIF21A基因突变分析  

Mutation analysis ofKIF21A gene in a Chinese family with congenital fibrosis of the extraocular muscles type I

作　　者：闫有圣[1,2] 郝胜菊[2] 王钢[1] 彭亮[1] 胡小平[1] 焦海燕[1] 

机构地区：[1]宁夏医科大学基础医学院医学遗传学与细胞生物学系,宁夏回族自治区遗传与生殖重点实验室,教育部生育力保持省部共建实验室,银川750004 [2]甘肃省妇幼保健院遗传室

出　　处：《中华医学遗传学杂志》2011年第5期490-492,共3页Chinese Journal of Medical Genetics

摘　　要：目的研究一个先天性眼外肌纤维化综合征I型（congenital fibrosis of the extraocular muscles typel，CFEOM1）家系KIF21A基因第20、21外显子突变与疾病的关系。方法收集CFEOM1一家系共计8个成员，采用测序和等位基因特异性PCR（allele—specific PCR，AS-PCR）方法分别对先证者及家系成员KIF21A第20、21外显子热点突变c．2860C〉T进行分析。选择KIF21A基因两侧4个STR位点（D12S1668、D12S2194、D12S331和D12S1048）进行单倍型分析。结果先证者和其他两例患者均存在KIF21A c．2860C〉T突变，家系中表型正常的成员均未检出该突变。单倍型分析结果显示该家系突变来源于母源性生殖腺嵌合体。结论KIF21A基因突变c．2860C〉T是该CFEOM1家系的致病突变。Objective To determine the mutation responsible for the congenital fibrosis of the extraocular muscles type I （CFEOM1） in a Chinese family. Methods Direct sequencing of exons 20 and 21 in the KIF21A gene was performed for the proband. The mutation c. 2860C〉T in exon 21 was examined by allele-specific PCR （AS-PCR） analysis in other family members. Haplotype analysis was performed using four STR markers （D12S1668, D12S2194, D12S331 and D12S1048）. Results A heterozygous mutation c. 2860C〉T in the KIF21A gene was identified in all three affected members with CFEOM1. Haplotype analysis suggested that the mutation might derive from maternal germline mosaicism. Conclusion This Chinese family with CFEOM1 may be caused by a c. 2860C〉T mutation in the KIF21A gene.

关 键 词：先天性眼外肌纤维化综合征 KIF21A基因 等位基因特异性聚合酶链反应 

分 类 号：R777.4[医药卫生—眼科]