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
3期
259-262
,共4页
杨嵘%李浒%詹成雄%冒海燕%詹泰岚%朱正烽%刘平%袁文林%柯铁%王擎%刘木根%唐朝晖
楊嶸%李滸%詹成雄%冒海燕%詹泰嵐%硃正烽%劉平%袁文林%柯鐵%王擎%劉木根%唐朝暉
양영%리호%첨성웅%모해연%첨태람%주정봉%류평%원문림%가철%왕경%류목근%당조휘
常染色体显性非综合性耳聋%MYH14基因%连锁分析%突变
常染色體顯性非綜閤性耳聾%MYH14基因%連鎖分析%突變
상염색체현성비종합성이롱%MYH14기인%련쇄분석%돌변
autosomal dominant non-syndromic hearing impairment%MYH14 gene%linkage analysis%mutation
目的 对两个有血缘关系的常染色体显性非综合性耳聋家系进行基因定位及突变分析,确定其致病基因.方法 通过家系调查和临床检查,鉴定了两个有血缘关系的常染色体显性非综合性耳聋大家系.并对已知位点及基因进行连锁分析,对致病基因在染色体上进行定位.PCR扩增候选基因MYH14基因的所有外显子和外显子-内含子交界区,直接测序法进行突变检测.结果 将这两个家系的致病基因定位于DFNA4位点,最大连锁值为4.94.具有统计学意义.突变检测发现MYH14基因的杂合突变c.359T>C(p.S120L),DNA直接测序确证两家系的所有患者均携带该突变,而家系中正常人则均不携带该突变.结论 第1次在中国非综合性耳聋家系中发现MYH14基因的突变,表明MYH14基因突变也是导致中国人非综合性耳聋的原因.
目的 對兩箇有血緣關繫的常染色體顯性非綜閤性耳聾傢繫進行基因定位及突變分析,確定其緻病基因.方法 通過傢繫調查和臨床檢查,鑒定瞭兩箇有血緣關繫的常染色體顯性非綜閤性耳聾大傢繫.併對已知位點及基因進行連鎖分析,對緻病基因在染色體上進行定位.PCR擴增候選基因MYH14基因的所有外顯子和外顯子-內含子交界區,直接測序法進行突變檢測.結果 將這兩箇傢繫的緻病基因定位于DFNA4位點,最大連鎖值為4.94.具有統計學意義.突變檢測髮現MYH14基因的雜閤突變c.359T>C(p.S120L),DNA直接測序確證兩傢繫的所有患者均攜帶該突變,而傢繫中正常人則均不攜帶該突變.結論 第1次在中國非綜閤性耳聾傢繫中髮現MYH14基因的突變,錶明MYH14基因突變也是導緻中國人非綜閤性耳聾的原因.
목적 대량개유혈연관계적상염색체현성비종합성이롱가계진행기인정위급돌변분석,학정기치병기인.방법 통과가계조사화림상검사,감정료량개유혈연관계적상염색체현성비종합성이롱대가계.병대이지위점급기인진행련쇄분석,대치병기인재염색체상진행정위.PCR확증후선기인MYH14기인적소유외현자화외현자-내함자교계구,직접측서법진행돌변검측.결과 장저량개가계적치병기인정위우DFNA4위점,최대련쇄치위4.94.구유통계학의의.돌변검측발현MYH14기인적잡합돌변c.359T>C(p.S120L),DNA직접측서학증량가계적소유환자균휴대해돌변,이가계중정상인칙균불휴대해돌변.결론 제1차재중국비종합성이롱가계중발현MYH14기인적돌변,표명MYH14기인돌변야시도치중국인비종합성이롱적원인.
Objective To identify the gene mutation for two Chinese families with autosomal dominant non-syndromic hearing impairment (NSHI). Methods Two NSHI pedigrees with common ancestor were identified by clinical examination and family investigation. Linkage analysis was performed for all known NSHI loci, and all exons and exon-intron boundaries of the non-muscle myosin heavy chain 14 (MYH14) gene were amplified by PCR and sequenced. Results The disease-causing gene of these 2 pedigrees was fine mapped to the DFNA4 locus on 19q13. 33. A heterozygous transition of c. 359T>C (p. S120L) in MYH14 gene was identified. The mutation was detected in all patients but not in normal members in the two families. Conclusion It is the first report that mutation in MYH14 gene can cause dominant non-syndromic hearing impairment in Asian population, suggesting that MYH14 gene can be a disease-causing gene of Chinese patients with hearing impairment.
