一个中国Bardet-Biedle综合症家系与BBS5位点连锁

A CHINESE BARDET-BIEDL SYNDROME FAMILY AND THE LINKAGE OF BBS5

[目的]对一个中国Bardet-Biedl综合症(Bardet-Biedl Syndrome,BBS)家系进行已知12个BBS位点/基因的基因型遗传连锁分析,找出与之连锁的位点。[方法]对中国四川省的一个Bardet-Biedl综合症家系进行临床检查并对其进行抽血提取DNA,然后用荧光标记的微卫星标记(STR遗传标记物)进行12个BBS位点的遗传连锁分析。[结果]经临床的检查后,本Bardet-Biedl综合症家系有1男性患有Bardet-Biedl综合症,临床症状包括视网膜营养不良(视网膜色素变性),多指,智力低下和肥胖,缺乏第二性征,患者睾丸和生殖器小。基因型分析和纯合子遗传连锁分析发现该家系的致病基因位点与BBS5完全连锁,而与其他已知的11个BBS位点/基因无连锁。[结论]发现了一个中国Bardet-Biedl综合症家系,经基因型分析和纯合子遗传连锁分析,发现该家系的疾病基因连锁在BBS5位点。现在正对该家系的BBS5基因进行序列分析。

[Objective] To describe the clinical features and genetic locus associated with Bardet-Biedl Syndrome （BBS） in a Chinese family. [Methods] Twenty-two individuals in a single family were carried out clinical examinations and nineteen of them were drawn blood. After DNA was extracted, microsatellite markers were used to analyze genetic linkage of 12 loci of BBS. [Results] One case in the studied family was affected with BBS and exhibited clinical features of the disease including pigmentary retinopathy, obesity, metal retardation, and hypogenitallism, etc. Genotyping and genetic linkage analysis on homozygote showed positive linkage to BBS5, analysis of eleven loci known did not associate with BBS. [ Conclusion] Genotyping and linkage analysis indicate that a Chinese BBS family links to BBS5, and this is the first time that Chinese family link to BBS5.