中华医学遗传学杂志
中華醫學遺傳學雜誌
중화의학유전학잡지
CHINESE JOURNAL OF MEDICAL GENETICS
2010年
1期
92-95
,共4页
姚丰%王应太%廖世秀%王莉%王涛%康冰
姚豐%王應太%廖世秀%王莉%王濤%康冰
요봉%왕응태%료세수%왕리%왕도%강빙
遗传性多发性骨软骨瘤%连锁分析%外显不全
遺傳性多髮性骨軟骨瘤%連鎖分析%外顯不全
유전성다발성골연골류%련쇄분석%외현불전
hereditary multiple exostoses%linkage analysis%nonpenetrance
目的 确定一个遗传性多发性骨软骨瘤(hereditary multiple exostoses,HME)家系的致病基因.方法 应用与EXT1、EXT2紧密连锁的短串联重复序列(short tandem repeat,STR)对该家系进行连锁分析,确定候选基因,然后对候选基因的编码区及外显子与内含子交界处进行PCR-测序法突变分析.结果 该家系致病基因被定位在EXT2基因区,测序发现EXT2基因536G>A无义突变,该突变位于EXT2基因第3外显子,导致编码第180位氨基酸的密码子成为终止密码,突变与疾病共分离,其余外显子未发现突变.另发现1例外显不全.结论 EXT2基因536G>A突变是导致这个家系发生骨软骨瘤的原因.
目的 確定一箇遺傳性多髮性骨軟骨瘤(hereditary multiple exostoses,HME)傢繫的緻病基因.方法 應用與EXT1、EXT2緊密連鎖的短串聯重複序列(short tandem repeat,STR)對該傢繫進行連鎖分析,確定候選基因,然後對候選基因的編碼區及外顯子與內含子交界處進行PCR-測序法突變分析.結果 該傢繫緻病基因被定位在EXT2基因區,測序髮現EXT2基因536G>A無義突變,該突變位于EXT2基因第3外顯子,導緻編碼第180位氨基痠的密碼子成為終止密碼,突變與疾病共分離,其餘外顯子未髮現突變.另髮現1例外顯不全.結論 EXT2基因536G>A突變是導緻這箇傢繫髮生骨軟骨瘤的原因.
목적 학정일개유전성다발성골연골류(hereditary multiple exostoses,HME)가계적치병기인.방법 응용여EXT1、EXT2긴밀련쇄적단천련중복서렬(short tandem repeat,STR)대해가계진행련쇄분석,학정후선기인,연후대후선기인적편마구급외현자여내함자교계처진행PCR-측서법돌변분석.결과 해가계치병기인피정위재EXT2기인구,측서발현EXT2기인536G>A무의돌변,해돌변위우EXT2기인제3외현자,도치편마제180위안기산적밀마자성위종지밀마,돌변여질병공분리,기여외현자미발현돌변.령발현1예외현불전.결론 EXT2기인536G>A돌변시도치저개가계발생골연골류적원인.
Objective To identify the gene causing hereditary multiple exostoses in a Chinese pedigree. Methods Linkage analysis was carried out in the family using microsatellite markers close linkage to the EXT1 and EXT2 genes to define the candidate gene. Then the whole coding sequence and the intronexon boundaries of the candidate gene were amplified and sequenced. Results The disease-causing gene of the family was linked to the EXT2 gene. A nonsense mutation of 536G>A in exon3 of the EXT2 gene was detected, which wasco-segregated with the disease phenotype. The mutation resulted in a stop codon in codon 180. A nonpenetrant case was found in the family. Conclusion The mutation 536G>A in the EXT2 gene is the disease-causing mutation in the pedigree with hereditary multiple exostoses.