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
3期
323-326
,共4页
吴莫龄%刘丽%周知子%盛慧英%尹曦%李秀珍%程静%黄永兰%蔡艳娜
吳莫齡%劉麗%週知子%盛慧英%尹晞%李秀珍%程靜%黃永蘭%蔡豔娜
오막령%류려%주지자%성혜영%윤희%리수진%정정%황영란%채염나
Kniest骨发育不全%COL2A1基因%Ⅱ型胶原纤维
Kniest骨髮育不全%COL2A1基因%Ⅱ型膠原纖維
Kniest골발육불전%COL2A1기인%Ⅱ형효원섬유
Kniest dysplasia%COL2A1 gene%Type Ⅱ collagen
目的 对两例临床诊断为Kniest骨发育不全的患儿进行COL2A1基因检测.方法 应用PCR法扩增患儿外周血COL2A1基因的54个外显子及内含子拼接区,对扩增片段进行直接测序,并对发现的突变进行鉴定.结果 在COL2A1基因的编码区内发现一个错义突变c.905C＞T(p.Ala302Val),为已报道的致病突变.患儿表现为矮小、身材不对称、四肢短小、关节粗大、特殊面容.结论 Kniest骨发育不全国内未见报道,所发现的COL2A1基因c.905C＞T致病突变国内亦未见报道.
目的 對兩例臨床診斷為Kniest骨髮育不全的患兒進行COL2A1基因檢測.方法 應用PCR法擴增患兒外週血COL2A1基因的54箇外顯子及內含子拼接區,對擴增片段進行直接測序,併對髮現的突變進行鑒定.結果 在COL2A1基因的編碼區內髮現一箇錯義突變c.905C＞T(p.Ala302Val),為已報道的緻病突變.患兒錶現為矮小、身材不對稱、四肢短小、關節粗大、特殊麵容.結論 Kniest骨髮育不全國內未見報道,所髮現的COL2A1基因c.905C＞T緻病突變國內亦未見報道.
목적 대량례림상진단위Kniest골발육불전적환인진행COL2A1기인검측.방법 응용PCR법확증환인외주혈COL2A1기인적54개외현자급내함자병접구,대확증편단진행직접측서,병대발현적돌변진행감정.결과 재COL2A1기인적편마구내발현일개착의돌변c.905C＞T(p.Ala302Val),위이보도적치병돌변.환인표현위왜소、신재불대칭、사지단소、관절조대、특수면용.결론 Kniest골발육불전국내미견보도,소발현적COL2A1기인c.905C＞T치병돌변국내역미견보도.
Objective To detect potential mutation of COL2A1 gene in two children suspected for Kniest dysplasia.Methods The 54 exons and splicing regions of the COL2A1 gene were amplified with PCR and the product was subjected to direct sequencing.Results A missense mutation (c.905C＞T,p.Ala302Val) was found in the coding region of the COL2A1 gene,which has been previously reported in abroad.The patients appeared to have short trunk dwarfism,enlarged joints and midface hypoplasia.Conclusion The probands are the first cases of Kniest dysplasia described in China,and so was the p.Ala302Val mutation.
