[关键词]
[摘要]
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。
[Key word]
[Abstract]
AIM: 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.
CONCLUSION: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.
[中图分类号]
[基金项目]
