【摘要】：目的確定一個(gè)非綜合征性耳聾家系的致病基因并為耳聾家庭提供準(zhǔn)確的遺傳咨詢和早期干預(yù),防止耳聾患兒出生。方法應(yīng)用聚合酶鏈反應(yīng)-直接測(cè)序方法,對(duì)該家系成員縫隙連接蛋白2(GJB2)基因的所有外顯子及其與內(nèi)含子交界處進(jìn)行測(cè)序,尋找基因突變點(diǎn)。對(duì)妊娠20周母親進(jìn)行產(chǎn)前診斷,行羊膜穿刺,抽取胎兒羊水細(xì)胞,提取DNA測(cè)定胎兒基因型,預(yù)測(cè)胎兒聽力狀態(tài)。結(jié)果該家系先證者GJB2基因攜帶235delC、176-191del16bp復(fù)合雜合突變,其父親攜帶176-191del16bp雜合突變,其母親攜帶235delC雜合突變。胎兒攜帶來自母親的235delC雜合突變。結(jié)論GJB2基因的235delC、176-191del16bp復(fù)合雜合突變是導(dǎo)致先證者耳聾發(fā)生的原因。胎兒為235delC雜合突變攜帶者。耳聾患者的基因診斷結(jié)合產(chǎn)前診斷對(duì)預(yù)防耳聾家庭再次生育聾兒可起到明確的指導(dǎo)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.
【作者單位】： 武漢大學(xué)基礎(chǔ)醫(yī)學(xué)院醫(yī)學(xué)遺傳學(xué)系;解放軍161醫(yī)院檢驗(yàn)科;孝感市中心醫(yī)院婦產(chǎn)科;
【基金】：湖北省計(jì)劃生育委員會(huì)科研項(xiàng)目(JS-2011013)~~
【分類號(hào)】：R764.43;R714.55

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