山西耳聋四家系分子病因学分析

An analysis of molecular etiology of hearing loss from four families in Taiyuan

目的应用分子生物学方法对耳聋四家系14例标本就耳聋热点突变基因进行筛查,分析四家系的耳聋病因。方法结合临床症状运用基因芯片、酶切和测序的方法对四家系耳聋的致病原因进行分析。结果芯片检测和测序显示:家系1患者IVA7-2A>G杂合突变来自母亲,c.C1229T突变来自父亲;家系2患者c.G79A(p.V27I)和c.A341G(p.R114G)来自母亲,GJB2 c.T70A(p.W24R)为体细胞突变;家系3患者c.G79A(p.V27I)和c.A341G(p.R114G)双杂合突变均来自父亲;家系4患者GJB2 235delC纯合缺失来自父母双方,c.G79A(p.V27I)和c.G232A(p.A78Y)杂合突变均来自母亲。结论本研究通过分子生物学的手段从基因的角度阐述了四家系的病因,为患者以后的优生优育及完善耳聋基因突变数据库奠定了基础。

Objective： Forteen specimens of the four families are screened in the deafness hot spot mutation by the application of molecular biology methods, in order to analyze the causes of deafness of the four families. Method ： Combinating clinical symptoms an- alyze the cause of deafness in four families by the microarray, enzyme digestion and sequencing methods. Results： Mieroarray and se- quencing show that IVA7 -2A 〉 G heterozygous mutation from the mother, c. C1229T mutation from the father in patient of the family 1 ; c. G79A （p. V27I） and c. A341G （p. R114G） from the mother, GJB2 c. T70A （p. W24R） from the somatic mutation in patient of the family 2; c. G79A （p. V27I） and c. A341G （p. R114G） heterozygous mutation from the father in patient of the family 3; GJB2 235delc homozygous deletion from both parents, e. G79A （p. V27I） and c. G232A （p. A78Y） heterozygous mutation from the mother in patient of the family 4. Conclusion ： This study expounded the cause of the four families by molecular biology methods. This result is basic for their healthy birth and child care in the future and has contributed to improve the deafness gene mutation database.