苏格兰和瑞士人群中人类苯丙氨酸羟化酶基因座的单倍型分布。
Haplotype distribution of the human phenylalanine hydroxylase locus in Scotland and Switzerland.
作者信息
Sullivan S E, Moore S D, Connor J M, King M, Cockburn F, Steinmann B, Gitzelmann R, Daiger S P, Woo S L
机构信息
Howard Hughes Medical Institute, Department of Cell Biology, Baylor College of Medicine, Houston, TX 77030.
出版信息
Am J Hum Genet. 1989 May;44(5):652-9.
RFLP haplotypes at the phenylalanine hydroxylase (PAH) locus were determined in 45 nuclear Caucasian families from Switzerland and Scotland. The RFLPs at the PAH locus are highly informative, and prenatal diagnosis is possible in 85% of the families studied. The data were combined with the profiles previously observed in the Danish population, in order to study the variation in RFLP haplotype distribution among European populations. A total of 22 different haplotypes were observed in Denmark, Switzerland, and Scotland. Fifteen and 19 haplotypes are associated with the normal (non-PKU) and with the mutant chromosomes, respectively. The haplotype distribution and the allele frequency of normal chromosomes remain constant between Denmark, Switzerland, and Scotland. However, both the haplotype distribution and allele frequencies of mutant chromosomes show significant variation between the three countries. Our results suggest there may be additional mutations in the PAH gene that cause PKU.
在来自瑞士和苏格兰的45个白种人核心家庭中，确定了苯丙氨酸羟化酶（PAH）基因座的限制性片段长度多态性（RFLP）单倍型。PAH基因座的RFLP信息含量很高，在所研究的85%的家庭中可以进行产前诊断。将这些数据与之前在丹麦人群中观察到的图谱相结合，以研究欧洲人群中RFLP单倍型分布的差异。在丹麦、瑞士和苏格兰共观察到22种不同的单倍型。正常（非苯丙酮尿症，PKU）染色体和突变染色体分别与15种和19种单倍型相关。丹麦、瑞士和苏格兰之间正常染色体的单倍型分布和等位基因频率保持不变。然而，三个国家之间突变染色体的单倍型分布和等位基因频率均存在显著差异。我们的结果表明，PAH基因中可能存在导致PKU的其他突变。
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