医学美学美容（中旬刊）
醫學美學美容（中旬刊）
의학미학미용（중순간）
MEDICAL AESTHETICS AND COSMETOLOGY
2014年
7期
38-39
,共2页
张正中%牟韵竹%杨浩%杨萍%刘一平%唐芹芹%刘林莉%陈星%眭维耻
張正中%牟韻竹%楊浩%楊萍%劉一平%唐芹芹%劉林莉%陳星%眭維恥
장정중%모운죽%양호%양평%류일평%당근근%류림리%진성%휴유치
着色性干皮病%突变%XPA%XPC
著色性榦皮病%突變%XPA%XPC
착색성간피병%돌변%XPA%XPC
Xeroderma Pigmentosum%XPA%XPC%mutation
目的：检测1个着色性干皮病家系的XPA和XPC基因突变。方法收集1个着色性干皮病家系的临床资料，采集先证者及其家庭成员的外周血标本，提取外周血白细胞中的DNA，采用PCR反应扩增XPA和XPC所有外显子编码区及其侧翼序列，通过对PCR反应产物直接测序进行序列分析。结果该着色性干皮病家系未发现XPA和XPC的致病性基因突变。结论尽管XPA和XPC是国内比较常见的着色性干皮病亚型，但该家系可能属于其他的亚型。
目的：檢測1箇著色性榦皮病傢繫的XPA和XPC基因突變。方法收集1箇著色性榦皮病傢繫的臨床資料，採集先證者及其傢庭成員的外週血標本，提取外週血白細胞中的DNA，採用PCR反應擴增XPA和XPC所有外顯子編碼區及其側翼序列，通過對PCR反應產物直接測序進行序列分析。結果該著色性榦皮病傢繫未髮現XPA和XPC的緻病性基因突變。結論儘管XPA和XPC是國內比較常見的著色性榦皮病亞型，但該傢繫可能屬于其他的亞型。
목적：검측1개착색성간피병가계적XPA화XPC기인돌변。방법수집1개착색성간피병가계적림상자료，채집선증자급기가정성원적외주혈표본，제취외주혈백세포중적DNA，채용PCR반응확증XPA화XPC소유외현자편마구급기측익서렬，통과대PCR반응산물직접측서진행서렬분석。결과해착색성간피병가계미발현XPA화XPC적치병성기인돌변。결론진관XPA화XPC시국내비교상견적착색성간피병아형，단해가계가능속우기타적아형。
Objectives To identify pathogenic mutation of the XPA and XPC gene in one familial cases of xeroderma pigmentosum. Methods We col ected blood samples and clinical data from one familial cases of xeroderma pigmentosum.Genomic DNA was extracted from peripheral blood.Al the coding exons and exon-intron flanking sequences of XPA and XPC gene were amplified by polymerase chain reaction and products were analyzed by direct sequencing. Results No XPA and XPC pathogenic mutation was found in this family with xeroderma pigmentosum. Conclusions Although XPA and XPC is a more common subtypes with xeroderma pigmentosum in the domestic,but this family may be other subtypes.
