一个非综合征性耳聋家系的GJB2基因突变分析及产前诊断

发布时间：2019-05-12 10:28

【摘要】：目的确定一个非综合征性耳聋家系的致病基因并为耳聋家庭提供准确的遗传咨询和早期干预,防止耳聋患儿出生。方法应用聚合酶链反应-直接测序方法,对该家系成员缝隙连接蛋白2(GJB2)基因的所有外显子及其与内含子交界处进行测序,寻找基因突变点。对妊娠20周母亲进行产前诊断,行羊膜穿刺,抽取胎儿羊水细胞,提取DNA测定胎儿基因型,预测胎儿听力状态。结果该家系先证者GJB2基因携带235delC、176-191del16bp复合杂合突变,其父亲携带176-191del16bp杂合突变,其母亲携带235delC杂合突变。胎儿携带来自母亲的235delC杂合突变。结论GJB2基因的235delC、176-191del16bp复合杂合突变是导致先证者耳聋发生的原因。胎儿为235delC杂合突变携带者。耳聋患者的基因诊断结合产前诊断对预防耳聋家庭再次生育聋儿可起到明确的指导作用。
[Abstract]:Objective to determine the pathogenic gene of a family with non-symptomatic deafness and to provide accurate genetic counseling and early intervention for deaf families to prevent the birth of deaf children. Methods Polymerase chain reaction (PCR)-direct sequencing was used to sequence all exons of gap junctional protein 2 (GJB2) gene and its junction with intron in this pedigree. The fetal amniotic fluid cells were extracted from fetal amniotic fluid cells, the fetal genotype was determined by DNA extraction, and the fetal hearing status was predicted by antenatal diagnosis, amniotic membrane puncture, extraction of amniotic fluid cells, determination of fetal genotype and prediction of fetal hearing status. Results the proband GJB2 gene carried 235delC, 176x191del16bp complex heterozygous mutation, its father carried 176-191del16bp heterozygous mutation, and its mother carried 235delC heterozygous mutation. The fetus carries a 235delC heterozygous mutation from the mother. Conclusion the 235delC and 176191del16bp compound heterozygous mutation of GJB2 gene is the cause of deafness in proband. The fetus is a carrier of 235delC heterozygous mutation. Gene diagnosis combined with prenatal diagnosis of deaf patients can play a clear role in preventing the re-birth of deaf children in deaf families.
【作者单位】：武汉大学基础医学院医学遗传学系;解放军161医院检验科;孝感市中心医院妇产科;
【基金】：湖北省计划生育委员会科研项目(JS-2011013)~~
【分类号】：R764.43;R714.55

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