title: A single origin of phenylketonuria in Yemenite Jews.
abstract: Phenylketonuria (PKU) is a metabolic disease caused by recessive mutations of the gene encoding the hepatic enzyme phenylalanine hydroxylase (PAH). The incidence of PKU varies widely across different geographic areas, and is highest (about 1 in 5,000 live births) in Ireland and western Scotland, and among Yemenite Jews. A limited number of point mutations account for most of the PKU cases in the European population. Here we report that a single molecular defect--a deletion spanning the third exon of the PAH gene--is responsible for all the PKU cases among the Yemenite Jews. Examination of a random sample of Yemenite Jews using a molecular probe that detects the carriers of this deletion indicated a high frequency of the defective gene in this community. Although the deleted PAH gene was traced to 25 different locations throughout Yemen, family histories and official documents of the Yemenite Jewish community showed that the common ancestor of all the carriers of this genetic defect lived in San'a, the capital of Yemen, before the eighteenth century.
authors.affiliation: Department of Human Genetics, Sackler School of Medicine, Tel Aviv University, Israel.
authors.forename: S
authors.initials: S
authors.lastname: Avigad
authors.forename: B E
authors.initials: BE
authors.lastname: Cohen
authors.forename: S
authors.initials: S
authors.lastname: Bauer
authors.forename: G
authors.initials: G
authors.lastname: Schwartz
authors.forename: M
authors.initials: M
authors.lastname: Frydman
authors.forename: S L
authors.initials: SL
authors.lastname: Woo
authors.forename: Y
authors.initials: Y
authors.lastname: Niny
authors.forename: Y
authors.initials: Y
authors.lastname: Shiloh
mesh_terms: D000483:Alleles; D002872:Chromosome Deletion; D003710:Demography; D005091:Exons; D005260:Female; D006801:Humans; D007557:Israel; D007585:Jews / Q000235:genetics*; D008297:Male; D010375:Pedigree; D010651:Phenylalanine Hydroxylase / Q000235:genetics; D010661:Phenylketonurias / Q000235:genetics*; D012150:Polymorphism, Restriction Fragment Length; D015006:Yemen / Q000208:ethnology
chemical_list: D010651:Phenylalanine Hydroxylase