ABCB6基因在一常染色体显性遗传脉络膜缺损家系中的突变筛查(英文)

A novel mutation in ABCB6 causes autosomal dominant coloboma in a Chinese family

目的:对一个常染色体显性遗传的先天性脉络膜缺损家系进行ABCB6基因的突变筛查,明确致病基因。方法:近来有报道ABCB6基因突变可导致先天性脉络膜缺损,我们搜集了一个中国汉族先天性脉络膜缺损家系,采集家系成员及一百位正常对照人群的静脉血5mL,使用PCR产物直接测序对ABCB6基因进行突变筛查。结果:在该家系中我们发现了一个新突变(c.1380c>a),该突变在家系中与疾病表型共分离,并且在100名正常对照中均未发现该突变。结论:我们的研究结果扩大了ABCB6基因的突变谱,进一步确认了该基因在眼组织缺损发病中发挥了重要作用。

AlM： To screen mutations in the ABCB 6 gene in a Chinese family with autosomal dominant coloboma. METHODS： Recently ABCB 6 mutations have been reported to be associated with isolated coloboma. We collected 5 mL of blood samples from members of a Chinese family with coloboma and 100 normal controls.＆amp;nbsp;Mutations in ABCB 6 were determined by sequencing polymerase chain reaction （ PCR） products. RESULTS：We identified a novel mutation （ c. 1380c〉a） in the Chinese family. The mutation co-segregated with the disease phenotype in the patients, while it was not detected in other relatives or in the 100 normal controls. CONCLUSlON： Our results expand the spectrum of ABCB 6 mutations causing ocular coloboma, and further confirm the role of ABCB 6 in the pathogenesis of ocular coloboma.