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Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency: the prevalent mutation G985 (K304E) is subject to a strong founder effect from northwestern Europe.

Publication ,  Journal Article
Gregersen, N; Winter, V; Curtis, D; Deufel, T; Mack, M; Hendrickx, J; Willems, PJ; Ponzone, A; Parrella, T; Ponzone, R
Published in: Hum Hered
1993

Medium-chain acyl CoA dehydrogenase (MCAD) deficiency is a potentially fatal inherited defect of fatty acid beta-oxidation. Approximately 90% of the disease-causing alleles in diagnosed patients are due to a single base mutation, an A (adenine) to G (guanine) transition at position 985 of MCAD cDNA (G985). In a limited number of cases it was found that this mutation was always associated with a particular haplotype, defined by three intragenic restriction fragment length polymorphisms, indicating a founder effect [Kølvraa et al.; Hum Genet 1991; 87: 425-429]. In addition, recent studies of American patients and their ancestors suggested the existence of a founder from northern Europe [Yokota et al.; Am J Hum Genet 1991; 49: 1280-1291]. In the present study we document (1) that the G985 heterozygous frequency in the Caucasian population of North Carolina in the USA is 1/84, which is 5- to 10-fold higher than in non-Caucasian Americans; (2) that there exists a 100% association of the G985 mutation in 17 families with MCAD-deficient patients to a certain haplotype, defined by the restriction endonucleases BanII, PstI and TaqI; (3) that MCAD deficiency due to the G985 mutation is more frequent in the Netherlands, Ireland, England, Belgium and Denmark than in other western European countries, and (4) that the frequency distribution of G985 mutation carriers is 1/68-1/101 in newborns in the United Kingdom and Denmark, and 1/333 in Italy. These results support the notion of a founder effect in northwestern Europe.

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Published In

Hum Hered

DOI

ISSN

0001-5652

Publication Date

1993

Volume

43

Issue

6

Start / End Page

342 / 350

Location

Switzerland

Related Subject Headings

  • White People
  • United States
  • Polymorphism, Restriction Fragment Length
  • Point Mutation
  • Lipid Metabolism, Inborn Errors
  • Humans
  • Homozygote
  • Heterozygote
  • Haplotypes
  • Genetics & Heredity
 

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Gregersen, N., Winter, V., Curtis, D., Deufel, T., Mack, M., Hendrickx, J., … Ponzone, R. (1993). Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency: the prevalent mutation G985 (K304E) is subject to a strong founder effect from northwestern Europe. Hum Hered, 43(6), 342–350. https://doi.org/10.1159/000154157
Gregersen, N., V. Winter, D. Curtis, T. Deufel, M. Mack, J. Hendrickx, P. J. Willems, A. Ponzone, T. Parrella, and R. Ponzone. “Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency: the prevalent mutation G985 (K304E) is subject to a strong founder effect from northwestern Europe.Hum Hered 43, no. 6 (1993): 342–50. https://doi.org/10.1159/000154157.
Gregersen N, Winter V, Curtis D, Deufel T, Mack M, Hendrickx J, et al. Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency: the prevalent mutation G985 (K304E) is subject to a strong founder effect from northwestern Europe. Hum Hered. 1993;43(6):342–50.
Gregersen, N., et al. “Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency: the prevalent mutation G985 (K304E) is subject to a strong founder effect from northwestern Europe.Hum Hered, vol. 43, no. 6, 1993, pp. 342–50. Pubmed, doi:10.1159/000154157.
Gregersen N, Winter V, Curtis D, Deufel T, Mack M, Hendrickx J, Willems PJ, Ponzone A, Parrella T, Ponzone R. Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency: the prevalent mutation G985 (K304E) is subject to a strong founder effect from northwestern Europe. Hum Hered. 1993;43(6):342–350.
Journal cover image

Published In

Hum Hered

DOI

ISSN

0001-5652

Publication Date

1993

Volume

43

Issue

6

Start / End Page

342 / 350

Location

Switzerland

Related Subject Headings

  • White People
  • United States
  • Polymorphism, Restriction Fragment Length
  • Point Mutation
  • Lipid Metabolism, Inborn Errors
  • Humans
  • Homozygote
  • Heterozygote
  • Haplotypes
  • Genetics & Heredity