DNA analysis of cystic fibrosis in Brazil by direct PCR amplification from Guthrie cards.
DNA analysis of cystic fibrosis in Brazil by direct PCR amplification from Guthrie cards.
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通过 Guthrie 卡的直接 PCR 扩增对巴西囊性纤维化进行 DNA 分析。
DOI：
10.1002/ajmg.1320460612
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发表时间：
1993
期刊：
影响因子：
--
通讯作者：
Giugliani,R
中科院分区：
文献类型：
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作者：
Raskin,S;Phillips3rd,JA;Krishnamani,MR;Vnencak-Jones,C;Parker,RA;Rozov,T;Cardieri,JM;Marostica,P;Abreu,F;Giugliani,R
囊性纤维化（CF）基因的密码子508（苯丙氨酸）的3bp缺失构成大多数CF染色体的突变。该突变（称为ΔF508）的频率在不同人群之间差异很大，范围从土耳其CF突变的26%到丹麦的88%。为了确定巴西高加索CF患者ΔF508突变的频率，我们使用直接聚合酶链反应（PCR）扩增从古特里卡上的干血点获得的DNA，然后用溴化乙锭染色凝胶。虽然ΔF508突变的总频率为来自五个不同州的巴西高加索人的380条CF染色体的47%，但观察到显着的州间差异，ΔF508频率范围为27%至53%。虽然我们的方法可用于筛查患者及其亲属进行携带者检测和产前诊断，但仅筛查ΔF508突变的有效性很低，并且各州之间的差异很大。需要筛查一组局部突变，以提高突变检测率并优化遗传咨询。© 1993 Wiley利斯公司
A 3 bp deletion of condon 508 (phenylalanine) of the cystic fibrosis (CF) gene constitutes the mutation of most CF chromosomes. The frequency of this mutation (referred to as ΔF508), varies considerably between populations, ranging form 26% of the CF mutations in Turkey to 88% in Denmark. To determine the frequency of the ΔF508 mutation in Brazilian Caucasoid CF patients, we used direct polymerase chain reacion (PCR) amplification of DNA obtained from dried blood spots on Guthrie cards, followed by ethidium bromide staining of gels. Although the overall frequency of the ΔF508 mutation was 47% of 380 CF chromosomes from Brazilian Caucasoids born in five different states, significant inter‐state differences were observed, ranging from a ΔF508 frequency of 27% to 53%. While our method could be used to screen patients and their relatives for carrier testing and prenatal diagnosis, the efficacy of screening only for the ΔF508 mutation would be low, and would vary from state to state. Screening for a panel of local mutations will be needed to increase the mutation detection rate and optimize genetic counseling. © 1993 Wiley‐Liss, Inc.