五个17α-羟化酶/17,20碳链裂解酶缺陷症家系七例患者的临床和分子遗传学研究
오개17α-간화매/17,20탄련렬해매결함증가계칠례환자적림상화분자유전학연구
Clinical and molecular genetic analysis for 7 patients from 5 pedigrees with 17α-hydroxylase/17, 20 lyase deficiency
  • 万方数据
    中华医学遗传学杂志 중화의학유전학잡지
    CHINESE JOURNAL OF MEDICAL GENETICS
    2009年 3期 282-287 ,共6页

    刘炳丽%乔洁%陈霞%梁军%左春林%顾燕云%韩兵%龚静%汝颖%陆颖理%吴万龄%陈名道%宋怀东

    류병려%교길%진하%량군%좌춘림%고연운%한병%공정%여영%륙영리%오만령%진명도%송부동

    17α-羟化酶/17,20-碳链酶缺陷症%CYP17A1基因,基因突变%杂合子携带频率 17α-羥化酶/17,20-碳鏈酶缺陷癥%CYP17A1基因,基因突變%雜閤子攜帶頻率
    17α-간화매/17,20-탄련매결함증%CYP17A1기인,기인돌변%잡합자휴대빈솔
    17α-hydroxylase/17,20-lyase deficiency%CYP17A1 gene%gene mutation%heterozygote frequency
    目的 对5个家系的7例17α-羟化酶/17,20-碳链酶缺陷症(17α-hydroxylase/17,20 lyase deficiency,17OHD)患者进行基因突变检测,并探讨中国人170HD的基因突变特点及杂合子携带情况.方法 收集临床资料,进行激素水平测定,并对患者CYP17A1基因采用PCR扩增产物直接测序及亚克隆测序的方法明确.对288名山东正常人的CYP17A1基因采用PCR及限制性酶切片段长度多态性进行基因突变分析.结果 7例患者(5例为46,XX;2例为46,XY)均存在第二性征不发育、高血压、低血钾,性激素及皮质醇明显低于正常,共发现3种基因突变类型,TAC329AA,D487_F489 del和H373L.在288名山东人群中进行筛查,发现1例D487_F489 del的杂合携带者.结论 TAC329AA和D487_F489 del为中国人最常见的突变类型,170HD在中国人发病率较预料中的要高,D487_F489 del的杂合携带者在中国人群中有一定的比例.
    목적 대5개가계적7례17α-간화매/17,20-탄련매결함증(17α-hydroxylase/17,20 lyase deficiency,17OHD)환자진행기인돌변검측,병탐토중국인170HD적기인돌변특점급잡합자휴대정황.방법 수집림상자료,진행격소수평측정,병대환자CYP17A1기인채용PCR확증산물직접측서급아극륭측서적방법명학.대288명산동정상인적CYP17A1기인채용PCR급한제성매절편단장도다태성진행기인돌변분석.결과 7례환자(5례위46,XX;2례위46,XY)균존재제이성정불발육、고혈압、저혈갑,성격소급피질순명현저우정상,공발현3충기인돌변류형,TAC329AA,D487_F489 del화H373L.재288명산동인군중진행사사,발현1례D487_F489 del적잡합휴대자.결론 TAC329AA화D487_F489 del위중국인최상견적돌변류형,170HD재중국인발병솔교예료중적요고,D487_F489 del적잡합휴대자재중국인군중유일정적비례.
    Objective To investigate the clinical and genetic characteristics of 7 patients from 5 families with 17α-hydroxylase/17, 20 lyase deficiency (17OHD) and the CYP17A1 mutation in Chinese. Methods Clinical features and laboratory data were collected from 5 families with 17OHD. PCR direct sequencing was performed to screen the mutation of CYP17A1 gene of the patients. Polymerase chain reaction-restriction fragment length polymorphism(PCR-RFLP) and sequencing were performed to screen the mutations of CYP17A1 gene in 288 healthy individuals from Shandong province. Results Seven patients (5 of them were 46, XX; 2 were 46, XY) had typical clinical presentation of sexual infantilism, hypertension and hypokalemia. Hormone profile indicated decreased plasma cotisol and sex hormones, and elevated blood adrenocorticotrophic hormone (ACTH). TAC329AA and H373L in exon 6 and D487_ F489del in exon 8 were identified from the patients. One heterozygote for D487_F489del was identified in 288 healthy controls. Conclusion The TAC329AA and D487_F489del of the CYP17A1 gene were the most frequent mutations in Chinese with 17OHD. There might be certain frequency of heterozygotes for D487_ F489del in Chinese population.
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