皮肤性病诊疗学杂志
皮膚性病診療學雜誌
피부성병진료학잡지
DIAGNOSIS AND THERAPY JOURNAL OF DERMATO-VENEREOLOGY
2014年
3期
189-191
,共3页
斑驳病%KIT基因%突变
斑駁病%KIT基因%突變
반박병%KIT기인%돌변
Piebaldism%KIT gene%Gene mutation
目的：研究斑驳病患者中KIT基因突变，为该病的基因诊断及治疗奠定基础。方法：调查2个斑驳病家系，其中家系1共有10名成员，4人为斑驳病患者；家系2共有8名成员，3人为斑驳病患者。对患者及其家系中健康人的KIT基因进行测序，并选择同时期100例来本院进行健康体检的志愿者进行对照分析。结果：患者均表现为先天性白斑和白色额发，且白斑数目随年龄增长而增加，白斑形状从开始时的三角形或棱形逐渐融合成大片，分布从开始时的前额逐渐分布至四肢、关节、躯干，白斑面积达体表总面积60％以上。测序结果表明，两个家系中7例患者存在同样的突变，即KIT基因的第12位外显子中的第1861位碱基发生改变，从鸟嘌呤（ G）突变成腺嘌呤（ A），导致621位氨基酸残基从缬氨酸变成了苏氨酸，而家系中健康人及对照组在此位点不存在该基因突变。扩增21个外显子，全部扩增成功，其他外显子未发现突变情况。结论：斑驳病患者中存在KIT基因突变。
目的：研究斑駁病患者中KIT基因突變，為該病的基因診斷及治療奠定基礎。方法：調查2箇斑駁病傢繫，其中傢繫1共有10名成員，4人為斑駁病患者；傢繫2共有8名成員，3人為斑駁病患者。對患者及其傢繫中健康人的KIT基因進行測序，併選擇同時期100例來本院進行健康體檢的誌願者進行對照分析。結果：患者均錶現為先天性白斑和白色額髮，且白斑數目隨年齡增長而增加，白斑形狀從開始時的三角形或稜形逐漸融閤成大片，分佈從開始時的前額逐漸分佈至四肢、關節、軀榦，白斑麵積達體錶總麵積60％以上。測序結果錶明，兩箇傢繫中7例患者存在同樣的突變，即KIT基因的第12位外顯子中的第1861位堿基髮生改變，從鳥嘌呤（ G）突變成腺嘌呤（ A），導緻621位氨基痠殘基從纈氨痠變成瞭囌氨痠，而傢繫中健康人及對照組在此位點不存在該基因突變。擴增21箇外顯子，全部擴增成功，其他外顯子未髮現突變情況。結論：斑駁病患者中存在KIT基因突變。
목적：연구반박병환자중KIT기인돌변，위해병적기인진단급치료전정기출。방법：조사2개반박병가계，기중가계1공유10명성원，4인위반박병환자；가계2공유8명성원，3인위반박병환자。대환자급기가계중건강인적KIT기인진행측서，병선택동시기100례래본원진행건강체검적지원자진행대조분석。결과：환자균표현위선천성백반화백색액발，차백반수목수년령증장이증가，백반형상종개시시적삼각형혹릉형축점융합성대편，분포종개시시적전액축점분포지사지、관절、구간，백반면적체체표총면적60％이상。측서결과표명，량개가계중7례환자존재동양적돌변，즉KIT기인적제12위외현자중적제1861위감기발생개변，종조표령（ G）돌변성선표령（ A），도치621위안기산잔기종힐안산변성료소안산，이가계중건강인급대조조재차위점불존재해기인돌변。확증21개외현자，전부확증성공，기타외현자미발현돌변정황。결론：반박병환자중존재KIT기인돌변。
To study KIT gene mutation in patients with piebaldism.Methods:Two pedigrees were surveyed, including one family of total 10 family members, of which 4 were mottled patients, and the other family of total 8 family members, of which 3 were mottled patients.KIT gene was cloned by PCR and sequenced.The 100 individuals undergoing health check-up in the same time period were selected to conduct a comparative analysis.Results:7 patients presented leukoplakia and white hairs.The number of white spots increased with age, with a shape of trian-gles or rhombus at the beginning and gradually merged into a large patch.White spots distributed first from the forehead, then gradually spread to the limbs, joints and the torso, occupied more than 60%of the total surface area.7 patients exibited the same mutations, i.e., in the 12th exon of KIT gene , the 1 861st base guanin (G) was mutated into adenine (A), leading to the 621st a-mino acids residual from valine into threonine, while the healthy individuals from these two fami-lies and the controls did not exibit the mutations.All 21 exons were amplified successfully, and no mutation was not found in other exons.Conclusion:KIT gene mutation was found in the patients with piebaldism.
