title: Prenatal diagnosis and carrier detection for molybdenum cofactor deficiency type A in northern Israel using polymorphic DNA markers.
abstract: Molybdenum cofactor deficiency (MoCoD) is an autosomal recessive, fatal neurological disorder, characterized by the combined deficiency of sulphite oxidase, xanthine dehydrogenase and aldehyde oxidase. We have recently reported an excessive occurrence of this fatal disorder among segments of the Arab population in Northern Israel suggesting that the true incidence of MoCoD is probably underestimated in this highly inbred population. This lethal disease can be diagnosed prenatally by assay of sulphite oxidase activity in chorionic villus samples in pregnancies of couples who have had previously affected children (obligatory carriers). However, to date, there is no biochemical assay for carrier detection among the population at risk. Recently we demonstrated the linkage of a MoCoD gene to an 8-cM region on chromosome 6p21.3 in two consanguineous Israeli-Arab unrelated kindreds. The description of the MOCS1 gene that maps to the same region and which carries multiple mutations in MoCoD type A followed this finding. We describe here one additional kindred of Arab-Israeli origin, which is also linked to the MOCS1 locus, and demonstrate the feasibility of prenatal diagnosis and carrier detection using microsatellite markers in selected families when mutations are unknown. A complete correlation between the biochemical and DNA assays was found in a total of six samples (five chorionic villus and one amniocyte culture sample) obtained from the three MoCoD families.
authors.affiliation: Department of Genetics, Tamkin Human Molecular Genetics Research Facility, Technion-Israel Institute of Technology, Bruce Rappaport Faculty of Medicine, Haifa.
authors.forename: A
authors.initials: A
authors.lastname: Shalata
authors.forename: H
authors.initials: H
authors.lastname: Mandel
authors.forename: C
authors.initials: C
authors.lastname: Dorche
authors.forename: M T
authors.initials: MT
authors.lastname: Zabot
authors.forename: S
authors.initials: S
authors.lastname: Shalev
authors.forename: Y
authors.initials: Y
authors.lastname: Hugeirat
authors.forename: D
authors.initials: D
authors.lastname: Arieh
authors.forename: Z
authors.initials: Z
authors.lastname: Ronit
authors.forename: J
authors.initials: J
authors.lastname: Reiss
authors.forename: Y
authors.initials: Y
authors.lastname: Anbinder
authors.forename: N
authors.initials: N
authors.lastname: Cohen
mesh_terms: D002824:Chorionic Villi / Q000201:enzymology; D015193:Chorionic Villi Sampling; D002896:Chromosomes, Human, Pair 6; D003241:Consanguinity; D005260:Female; D006580:Genetic Carrier Screening; D008040:Genetic Linkage; D006239:Haplotypes; D006801:Humans; D007557:Israel; D008297:Male; D018895:Microsatellite Repeats; D008877:Middle East / Q000208:ethnology; D008982:Molybdenum / Q000172:deficiency*; D009154:Mutation; D050862:Oxidoreductases Acting on Sulfur Group Donors / Q000032:analysis; D011247:Pregnancy; D011296:Prenatal Diagnosis
chemical_list: D008982:Molybdenum; D050862:Oxidoreductases Acting on Sulfur Group Donors