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
66-68
,共3页
杨莉佳%李明%赖美玲%倪菁菁
楊莉佳%李明%賴美玲%倪菁菁
양리가%리명%뢰미령%예정정
先天性厚甲症%角蛋白6A基因%突变
先天性厚甲癥%角蛋白6A基因%突變
선천성후갑증%각단백6A기인%돌변
pachyonychia congenital%keratin 6A gene%mutation
目的 研究1个先天性厚甲症Ⅰ型(pachyonychia congenital type Ⅰ,PC-Ⅰ)家系中的角蛋白6A(keratin 6A,K6A)基因突变情况.方法 收集1个先天性厚甲症Ⅰ型家系,并提取该家系中2例患者及3名表型正常者和100名无亲缘关系健康个体的外周血标本,通过聚合酶链反应结合其产物DNA直接测序的方法 ,检测K6A基因的突变情况.结果 该家系中患者存在K6A基因上第521位碱基胸腺嘧啶(T)转化成胞嘧啶(C),使得K6A基因的第1外显子174位密码子由TTT突变成TCT,导致所编码的苯丙氨酸被丝氨酸取代,而该家系的正常人及无关健康个体对照不存在此突变.结论 该PC-Ⅰ家系中患者的表现型是K6A基因的错义突变(521 T→C)引起.
目的 研究1箇先天性厚甲癥Ⅰ型(pachyonychia congenital type Ⅰ,PC-Ⅰ)傢繫中的角蛋白6A(keratin 6A,K6A)基因突變情況.方法 收集1箇先天性厚甲癥Ⅰ型傢繫,併提取該傢繫中2例患者及3名錶型正常者和100名無親緣關繫健康箇體的外週血標本,通過聚閤酶鏈反應結閤其產物DNA直接測序的方法 ,檢測K6A基因的突變情況.結果 該傢繫中患者存在K6A基因上第521位堿基胸腺嘧啶(T)轉化成胞嘧啶(C),使得K6A基因的第1外顯子174位密碼子由TTT突變成TCT,導緻所編碼的苯丙氨痠被絲氨痠取代,而該傢繫的正常人及無關健康箇體對照不存在此突變.結論 該PC-Ⅰ傢繫中患者的錶現型是K6A基因的錯義突變(521 T→C)引起.
목적 연구1개선천성후갑증Ⅰ형(pachyonychia congenital type Ⅰ,PC-Ⅰ)가계중적각단백6A(keratin 6A,K6A)기인돌변정황.방법 수집1개선천성후갑증Ⅰ형가계,병제취해가계중2례환자급3명표형정상자화100명무친연관계건강개체적외주혈표본,통과취합매련반응결합기산물DNA직접측서적방법 ,검측K6A기인적돌변정황.결과 해가계중환자존재K6A기인상제521위감기흉선밀정(T)전화성포밀정(C),사득K6A기인적제1외현자174위밀마자유TTT돌변성TCT,도치소편마적분병안산피사안산취대,이해가계적정상인급무관건강개체대조불존재차돌변.결론 해PC-Ⅰ가계중환자적표현형시K6A기인적착의돌변(521 T→C)인기.
Objective To identify the mutation in the keratin 6A(K6A ) gene in a pedigree with pachyonychia congenita type Ⅰ (PC-Ⅰ). Methods Blood samples were obtained from 2 affected, 3 unaffected members in this family, and 100 unrelated healthy individuals. Mutation detection was carried out by PCR amplification of the K6A gene and direct DNA sequencing. Results A heterozygous mutation of T →C transition at position 521 in exon 1 of the K6A gene was found in the 2 affected, but not in the unaffected members and 100 unrelated healthy individuals. Conclusion The mutation of 521T→C in the K6A gene is the disease causing mutation in this PC-Ⅰ family.
