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

摘要

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. 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.%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。