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Please use this identifier to cite or link to this item: http://hdl.handle.net/1942/3346

Title: A survey of the newborn populations in Belgium, Germany, Poland, Czech Republic, Hungary, Bulgaria, Spain, Turkey, and Japan for the G985 variant allele with haplotype analysis at the medium chain Acyl-CoA dehydrogenase gene locus: Clinical and evolutionary consideration
Authors: Gregersen, N
Ribes, A
Kim, J
Kolvraa, S
Winter, V
Eiberg, H
Martinez-Garcia, Esteban
Deufel, T
Leifert, B
Santer, R
FRANCOIS, Baudouin
Pronicka, E
Laszlo, A
Kmoch, S
Kremensky, I
Kalaydjicva, L
Ozalp, I
Ito, M
FRANCOIS, Jean-Pierre
Issue Date: 1997
Publisher: WILLIAMS & WILKINS
Citation: PEDIATRIC RESEARCH, 41(2). p. 201-209
Abstract: Medium chain acyl-CoA dehydrogenase (MCAD) deficiency is an inborn error of fatty acid metabolism. It is one of the most frequent genetic metabolic disorders among Caucasian children. The G985 allele represented 90% of all the variant alleles of the MCAD gene in an extensive series of retrospective studies. To study the distribution of the G985 allele, newborn blood samples from the following countries were tested: 3000 from Germany (1/116), 1000 each from Belgium (1/77), Poland (1/98), Czech Republic (1/240), Hungary (1/168), Bulgaria (1/91), Spain (1/141), Turkey (1/216), and 500 from Japan (none). The frequency is shown in parentheses. The haplotype of G985 alleles in I homozygote and 57 heterozygote samples were then analyzed using two intragenic MCAD gene polymorphisms (TaqI and GT-repeat). The result indicated that only 1 of the 10 known haplotypes was associated with the G985 mutation, suggesting that G985 was derived originally from a single ancestral source. We made a compilation of the G985 frequencies in these countries and those in nine other European countries studied previously. The G985 distribution was high in the area stretching from Russia to Bulgaria in the east and in all northern countries in western and middle Europe, but low in the southern part of western and middle Europe. The incidence among ethnic Basques appeared to he low. This distribution pattern and the fact that all G985 alleles belong to a single haplotype suggest that G985 mutation occurred later than the Delta F508 mutation of the CFTR, possibly in the neolithic or in a later period, and was brought into Europe by IndoEuropean-speaking people. The panEuropean distribution of the G985 allele, including Slavic countries from which patients with MCAD deficiency have rarely been detected, indicates the importance of raising the level of awareness of this disease.
Notes: ARHUS UNIV HOSP,CTR MOL BIOL & MED,AARHUS,DENMARK. CORP SANIT,INST CLIN BIOCHEM,BARCELONA,SPAIN. UNIV COPENHAGEN,PANUM INST,INST MED GENET,DK-1168 COPENHAGEN,DENMARK. UNIV MUNSTER,MET LAB,D-4400 MUNSTER,GERMANY. CHRISTIAN ALBRECHTS UNIV KIEL,DEPT PEDIAT,D-2300 KIEL,GERMANY. LUC,DR WILLEMS INST,DIEPENBEEK,BELGIUM. CHILD HLTH CTR,DEPT METAB DIS,WARSAW,POLAND. ALBERT SZENT GYORGYI MED UNIV,DEPT PEDIAT,H-6701 SZEGED,HUNGARY. GEN FAC HOSP,CTR INBORN ERRORS METABOL,PRAGUE,CZECH REPUBLIC. UNIV HOSP OBSTET & GYNECOL,LAB MOL PATHOL,SOFIA,BULGARIA. HACETTEPE UNIV,INST CHILD HLTH,ANKARA,TURKEY. UNIV TOKUSHIMA,DEPT PEDIAT,TOKUSHIMA 770,JAPAN.Tanaka, K, YALE UNIV,SCH MED,DEPT GENET,333 CEDAR ST,NEW HAVEN,CT 06510.
URI: http://hdl.handle.net/1942/3346
ISI #: A1997WF27300008
ISSN: 0031-3998
Type: Journal Contribution
Appears in Collections: Research publications

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