Population genetics of phenylketonuria
Population genetics of phenylketonuria
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苯丙酮尿症的群体遗传学
作者：
R. Eisensmith;S. Woo
苯丙酮尿症（PKU）是一种由苯丙氨酸羟化酶（PAH）基因突变引起的常染色体隐性遗传病，大多数突变与特定的RFLP或VNTR单倍型密切相关。在PKU研究中仍然存在的一个主要问题是，为什么这种明显适应不良的疾病在高加索人中的发生率一直保持在1/10000左右。越来越多的研究表明，PKU的相对高的频率和强突变/单倍型关联可能反映了PKU的多个创始人群的存在。将介绍在欧洲和亚洲的PKU假定创始人群的例子。一些PAH突变与多个单倍型相关，提示复发。证据和反对复发的机制负责与RFLP单倍型1和2的R408 W突变的关联将进行讨论。
Phenylketonuria (PKU) is an autosomal recessive disorder caused by a large number of mutations at the phenylalanine hydroxylase (PAH) locus, most of which are strongly associated with specific RFLP or VNTR haplotypes. One of the major questions remaining in PKU research is why this apparently maladaptive disorder has been maintained at a frequency of approximately 1 in 10000 among Caucasians. A growing number of studies have provided evidence that both the relatively high frequency of PKU and the strong mutation/haplotype associations might reflect the existence of multiple founding populations for PKU. Examples of putative founding populations for PKU in both Europe and Asia will be presented. Some PAH mutations are associated with multiple haplotypes, suggesting recurrence. Evidence for and against recurrence as the mechanism responsible for the association of the R408W mutation with RFLP haplotypes 1 and 2 will be discussed.
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东方人群中普遍存在的苯丙酮尿症突变的创始人效应。
DOI：
10.1073/pnas.88.6.2146
发表时间：
1991
影响因子：
11.1
作者：
Wang,T;Okano,Y;Eisensmith,RC;Harvey,ML;Lo,WH;Huang,SZ;Zeng,YT;Yuan,LF;Furuyama,JI;Oura,T
通讯作者：
Oura,T
欧洲苯丙酮尿症的多个起源。
影响因子：
9.8
作者：
Eisensmith,RC;Okano,Y;Dasovich,M;Wang,T;Güttler,F;Lou,H;Guldberg,P;Lichter-Konecki,U;Konecki,DS;Svensson,E
通讯作者：
Svensson,E
人苯丙氨酸羟化酶基因突变与 VNTR 之间的关联。
影响因子：
9.8
作者：
Goltsov,AA;Eisensmith,RC;Konecki,DS;Lichter-Konecki,U;Woo,SL
通讯作者：
Woo,SL
中国人中一种新型苯丙酮尿症 (PKU) 突变的鉴定：亚洲 PKU 多重起源的进一步证据。
影响因子：
9.8
作者：
Wang,T;Okano,Y;Eisensmith,RC;Lo,WH;Huang,SZ;Zeng,YT;Woo,SL
通讯作者：
Woo,SL