中华医学遗传学杂志
中華醫學遺傳學雜誌
중화의학유전학잡지
CHINESE JOURNAL OF MEDICAL GENETICS
2015年
3期
307-311
,共5页
袁萍%曾艳红%郑灵燕%邓佳%王静%徐艳文%周灿权
袁萍%曾豔紅%鄭靈燕%鄧佳%王靜%徐豔文%週燦權
원평%증염홍%정령연%산가%왕정%서염문%주찬권
婴儿恶性石骨症%产前诊断%植入前遗传学诊断%TCIRG1基因
嬰兒噁性石骨癥%產前診斷%植入前遺傳學診斷%TCIRG1基因
영인악성석골증%산전진단%식입전유전학진단%TCIRG1기인
Infantile malignant osteopetrosis%Prenatal diagnosis%Preimplantation genetic diagnosis%TCIRG1 gene
目的 探讨植入前遗传学诊断在婴儿恶性石骨症出生缺陷预防中的应用.方法 对1个已明确TCIRG1基因突变的婴儿恶性石骨症家系,应用植入前遗传学诊断技术进行TCIRG1基因突变位点直接测序,并结合选择性遗传标记的单倍型构建进行连锁分析;通过突变位点的直接测序法,对产前绒毛活检和羊水穿刺样本进行遗传学诊断.结果 第3次妊娠时产前基因诊断的结果显示胎儿存在TCIRG1基因c.242delC (p.Pro81Argfs* 85)和c.1114C＞T (p.Gln372*)复合杂合性突变,为遗传了父母双方的致病性突变位点的患儿,选择终止妊娠.随后通过植入前遗传学诊断方法,先后对13个胚胎单卵裂球进行遗传学分析,确定其中6个胚胎为正常,3个胚胎为携带者,4个胚胎为患者.选择了发育良好且遗传学上正常或携带者的胚胎植入母体子宫,受孕后并经产前诊断证实为正常胎儿,足月分娩后随访婴儿正常.结论 反复生育致死性遗传病的家系,在进行遗传咨询时可优先选择植入前遗传学诊断来避免患儿出生.
目的 探討植入前遺傳學診斷在嬰兒噁性石骨癥齣生缺陷預防中的應用.方法 對1箇已明確TCIRG1基因突變的嬰兒噁性石骨癥傢繫,應用植入前遺傳學診斷技術進行TCIRG1基因突變位點直接測序,併結閤選擇性遺傳標記的單倍型構建進行連鎖分析;通過突變位點的直接測序法,對產前絨毛活檢和羊水穿刺樣本進行遺傳學診斷.結果 第3次妊娠時產前基因診斷的結果顯示胎兒存在TCIRG1基因c.242delC (p.Pro81Argfs* 85)和c.1114C＞T (p.Gln372*)複閤雜閤性突變,為遺傳瞭父母雙方的緻病性突變位點的患兒,選擇終止妊娠.隨後通過植入前遺傳學診斷方法,先後對13箇胚胎單卵裂毬進行遺傳學分析,確定其中6箇胚胎為正常,3箇胚胎為攜帶者,4箇胚胎為患者.選擇瞭髮育良好且遺傳學上正常或攜帶者的胚胎植入母體子宮,受孕後併經產前診斷證實為正常胎兒,足月分娩後隨訪嬰兒正常.結論 反複生育緻死性遺傳病的傢繫,在進行遺傳咨詢時可優先選擇植入前遺傳學診斷來避免患兒齣生.
목적 탐토식입전유전학진단재영인악성석골증출생결함예방중적응용.방법 대1개이명학TCIRG1기인돌변적영인악성석골증가계,응용식입전유전학진단기술진행TCIRG1기인돌변위점직접측서,병결합선택성유전표기적단배형구건진행련쇄분석;통과돌변위점적직접측서법,대산전융모활검화양수천자양본진행유전학진단.결과 제3차임신시산전기인진단적결과현시태인존재TCIRG1기인c.242delC (p.Pro81Argfs* 85)화c.1114C＞T (p.Gln372*)복합잡합성돌변,위유전료부모쌍방적치병성돌변위점적환인,선택종지임신.수후통과식입전유전학진단방법,선후대13개배태단란렬구진행유전학분석,학정기중6개배태위정상,3개배태위휴대자,4개배태위환자.선택료발육량호차유전학상정상혹휴대자적배태식입모체자궁,수잉후병경산전진단증실위정상태인,족월분면후수방영인정상.결론 반복생육치사성유전병적가계,재진행유전자순시가우선선택식입전유전학진단래피면환인출생.
Objective To explore the application of preimplantation genetic diagnosis (PGD) for infantile malignant osteopetrosis (IMO).Methods For a family affected with IMO,PGD was provided using combined parental mutation detection and haplotype constructions with microsatellite markers spanning the TCIRG1 gene.Prenatal diagnosis was performed on the chorionic villus and amniocentesis samples by direct sequencing.Results Prenatal diagnosis showed that the fetus by the third pregnancy has carried the parental mutations [c.242delC (p.Pro81Argfs * 85) and c.1114C＞T (p.Gln372 *)],and the pregnancy was terminated.PGD was subsequently performed through mutations detection and haplotype analyses following whole genome amplification (WGA) of each of 13 cells.The results showed that 6 of the 13 embryos were unaffected,3 were carriers and 4 were affected.Well developed unaffected/carrier embryos were selected and transferred into the uterus.A single pregnancy was confirmed.Subsequently pre-and post-natal diagnoses have confirmed development of a healthy child.Conclusion The study demonstrated the advantage of PGD over prenatal diagnosis when natural pregnancies have repeatedly produced IMO children/fetuses.
