中华医学遗传学杂志
中華醫學遺傳學雜誌
중화의학유전학잡지
CHINESE JOURNAL OF MEDICAL GENETICS
2009年
5期
542-545
,共4页
林婴%黎静%杨洋%杨季云%张本%唐新%刘晓琦%鲁芳%杨正林
林嬰%黎靜%楊洋%楊季雲%張本%唐新%劉曉琦%魯芳%楊正林
림영%려정%양양%양계운%장본%당신%류효기%로방%양정림
先天性无虹膜%PAX6基因%突变
先天性無虹膜%PAX6基因%突變
선천성무홍막%PAX6기인%돌변
congenital aniridia%PAX6 gene%mutation
目的 鉴定一个先天性无虹膜合并白内障家系的致病是否与PAX6基因突变有关.方法 提取该家系全部12名存活成员和96名正常人外周血白细胞DNA,PCR扩增PAX6基因的第4～13编码外显子及侧翼内含子剪切区域,通过直接测序比较家系患者与正常人序列差异以确定致病突变.结果 对PAX6基因序列分析结果显示,该家系3例患者中均存在一个无义突变,而在正常人和家系中非受累成员中则未发现.无义突变位于PAX6基因第10外显子1143位核苷酸c.1143C>T,突变导致精氨酸替换为终止密码(R261X).结论 PAX6基因突变R261X是中国人先天性无虹膜合并白内障的致病突变.
目的 鑒定一箇先天性無虹膜閤併白內障傢繫的緻病是否與PAX6基因突變有關.方法 提取該傢繫全部12名存活成員和96名正常人外週血白細胞DNA,PCR擴增PAX6基因的第4～13編碼外顯子及側翼內含子剪切區域,通過直接測序比較傢繫患者與正常人序列差異以確定緻病突變.結果 對PAX6基因序列分析結果顯示,該傢繫3例患者中均存在一箇無義突變,而在正常人和傢繫中非受纍成員中則未髮現.無義突變位于PAX6基因第10外顯子1143位覈苷痠c.1143C>T,突變導緻精氨痠替換為終止密碼(R261X).結論 PAX6基因突變R261X是中國人先天性無虹膜閤併白內障的緻病突變.
목적 감정일개선천성무홍막합병백내장가계적치병시부여PAX6기인돌변유관.방법 제취해가계전부12명존활성원화96명정상인외주혈백세포DNA,PCR확증PAX6기인적제4～13편마외현자급측익내함자전절구역,통과직접측서비교가계환자여정상인서렬차이이학정치병돌변.결과 대PAX6기인서렬분석결과현시,해가계3례환자중균존재일개무의돌변,이재정상인화가계중비수루성원중칙미발현.무의돌변위우PAX6기인제10외현자1143위핵감산c.1143C>T,돌변도치정안산체환위종지밀마(R261X).결론 PAX6기인돌변R261X시중국인선천성무홍막합병백내장적치병돌변.
Objective To identify the mutation in the PAX6 gene in a family with congenital aniridia and cataract. Methods Total genomic DNA was extracted from peripheral blood leukocytes of 12 family members including three living affected members and 96 unrelated healthy controls. The coding exons 4-13 of the PAX6 gene with intronic flanking sequences were amplified by polymerase chain reaction (PCR). By comparing sequences of the affected members with that of normal individuals, the disease-causing mutation was detected by direct DNA sequencing. Results A PAX6 mutation was identified in the 3 patients, which did not exist in the unaffected members and unrelated healthy individuals. The nonsense mutation of C to T was detected at the nucleotide 1143, which converted the Arg codon (CGA) to a stop codon(TGA) (R261X) in exon 10. Conclusion The mutation (R261X) detected in the present study is considered to result in the occurrence of congenital aniridia and cataract in the Chinese family.
