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
4期
490-494
,共5页
苏艳华%刘洋%谢建生%徐志勇%吴维青%耿茜%罗福薇
囌豔華%劉洋%謝建生%徐誌勇%吳維青%耿茜%囉福薇
소염화%류양%사건생%서지용%오유청%경천%라복미
SLC22A5基因%突变%原发性肉碱缺乏症%新型有机阳离子转运体2
SLC22A5基因%突變%原髮性肉堿缺乏癥%新型有機暘離子轉運體2
SLC22A5기인%돌변%원발성육감결핍증%신형유궤양리자전운체2
SLC22A5 gene%Mutation%Primary carnitine deficiency%Novel organic cation transporter-2
目的 对1例原发性肉碱缺乏症患儿及其家系进行SLC22A5基因突变检测,确定其突变位点,为家系提供遗传咨询和产前诊断.方法 收集该家系成员的外周血标本及先证者母亲的羊水标本,提取基因组DNA,运用Sanger法对家系中各成员进行SLC22A5基因10个外显子的直接测序,并对羊水标本行常规染色体核型分析及应用多重连接依赖探针扩增技术(multiplex ligation-dependent probe amplificating,MLPA)检测常见染色体微缺失综合征.结果 Sanger法DNA测序检测出该家系中先证者携带SLC22A5基因c.760C＞T(p.R254X)纯合突变,先证者父亲、母亲和姐姐均携带SLC22A5基因c.760C＞T(p.R254X)杂合突变.先证者母亲羊水标本也检测出SLC22A5基因c.760C＞T(p.R254X)杂合突变,羊水染色体核型分析及MLPA检测均无异常发现.结论 SLC22A5基因c.760C＞T突变可能是本家系中先证者患原发性肉碱缺乏症的致病突变,Sanger测序等技术可为原发性肉碱缺乏症家系提供遗传咨询和产前诊断服务.
目的 對1例原髮性肉堿缺乏癥患兒及其傢繫進行SLC22A5基因突變檢測,確定其突變位點,為傢繫提供遺傳咨詢和產前診斷.方法 收集該傢繫成員的外週血標本及先證者母親的羊水標本,提取基因組DNA,運用Sanger法對傢繫中各成員進行SLC22A5基因10箇外顯子的直接測序,併對羊水標本行常規染色體覈型分析及應用多重連接依賴探針擴增技術(multiplex ligation-dependent probe amplificating,MLPA)檢測常見染色體微缺失綜閤徵.結果 Sanger法DNA測序檢測齣該傢繫中先證者攜帶SLC22A5基因c.760C＞T(p.R254X)純閤突變,先證者父親、母親和姐姐均攜帶SLC22A5基因c.760C＞T(p.R254X)雜閤突變.先證者母親羊水標本也檢測齣SLC22A5基因c.760C＞T(p.R254X)雜閤突變,羊水染色體覈型分析及MLPA檢測均無異常髮現.結論 SLC22A5基因c.760C＞T突變可能是本傢繫中先證者患原髮性肉堿缺乏癥的緻病突變,Sanger測序等技術可為原髮性肉堿缺乏癥傢繫提供遺傳咨詢和產前診斷服務.
목적 대1례원발성육감결핍증환인급기가계진행SLC22A5기인돌변검측,학정기돌변위점,위가계제공유전자순화산전진단.방법 수집해가계성원적외주혈표본급선증자모친적양수표본,제취기인조DNA,운용Sanger법대가계중각성원진행SLC22A5기인10개외현자적직접측서,병대양수표본행상규염색체핵형분석급응용다중련접의뢰탐침확증기술(multiplex ligation-dependent probe amplificating,MLPA)검측상견염색체미결실종합정.결과 Sanger법DNA측서검측출해가계중선증자휴대SLC22A5기인c.760C＞T(p.R254X)순합돌변,선증자부친、모친화저저균휴대SLC22A5기인c.760C＞T(p.R254X)잡합돌변.선증자모친양수표본야검측출SLC22A5기인c.760C＞T(p.R254X)잡합돌변,양수염색체핵형분석급MLPA검측균무이상발현.결론 SLC22A5기인c.760C＞T돌변가능시본가계중선증자환원발성육감결핍증적치병돌변,Sanger측서등기술가위원발성육감결핍증가계제공유전자순화산전진단복무.
Objective To identify potential mutation of SLC22A5 gene in a 5-month-old boy affected with primary carnitine deficiency and provide genetic counseling and prenatal diagnosis for the members of his family.Methods DNA was extracted from peripheral blood samples derived from the proband,his parents and elder sister,as well as amniotic fluid from his pregnant mother.All of the 10 exons of the SLC22A5 gene were amplified by PCR and subjected to Sanger sequencing.The amniotic fluid sample was also subjected to C--banded karyotyping and multiplex ligation-dependent probe amplification (MLPA).Results A homozygous mutation c.760C＞T (p.R254X) of the SLC22A5 gene was detected in the proband.Heterozygous mutation c.760C＞T (p.R254X) was also found in other family members including the fetus.The karyotyping and chromosomal microdeletion testing for the amniotic fluid sample were both normal.Conclusion The newly identified homozygous nonsense c.760C＞T (p.R254X) mutation of the SLC22A5 gene probably underlies the primary carnitine deficiency of the proband.Genetic counseling and prenatal diagnosis have been provided for this family.
