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PMID: 623105 Published · ppublish English Case Reports Journal Article

Prenatal diagnosis by linkage: hemophilia A and polymorphic glucose-6-phosphate deydrogenase.

American journal of human genetics ·Vol. 30 ·No. 1 ·1978-01-00 ·Pages 80-4

Edgell CJ, Kirkman HN, Clemons E, Buchanan PD, Miller CH

Abstract

Close linkage between the loci for G6PD and hemophilia A allows prenatal diagnosis of hemophilia in the fetuses of certain women who are heterozygous for two electrophoretic types of G6PD. A pregnant woman, whose mother was an obligate heterozygote for hemophilia, had factor VIII levels and a G6PD phenotype that failed to indicate clearly whether or not she was heterozygous for hemophilia. The G6PD phenotype of her male fetus revealed that the fetus was unlikely to have hemophilia.

MeSH Terms
Female Genes Genetic Linkage Glucosephosphate Dehydrogenase/genetics Hemophilia A/diagnosis,genetics Humans Male Pedigree Polymorphism, Genetic Pregnancy Prenatal Diagnosis/methods
Chemicals
Glucosephosphate Dehydrogenase
Authors & Affiliations
5 authors, click to expand affiliations / ORCID
Edgell C J
Kirkman H N
Clemons E
Buchanan P D
Miller C H
References (6)
6 references, click to expand
  1. Linkage Between the X Chromosome Loci for Glucose-6-Phosphate Dehydrogenase Electrophoretic Variation and Hemophilia A.
    Am J Hum Genet. 1965 Jul;17(4):320-4 PMID: 17948498
  2. The phenotypic range of hemophilia A carriers.
    Am J Hum Genet. 1976 Sep;28(5):482-8 PMID: 984044
  3. Use of genetic linkage for the detection of female carriers of hemophilia.
    N Engl J Med. 1971 Jul 22;285(4):218-9 PMID: 5087725
  4. Genetic counselling. A comparison of two techniques in the detection of Negro carriers of haemophilia.
    S Afr Med J. 1973 Jul 14;47(27):1185-8 PMID: 4721920
  5. Widening the scope of antenatal diagnosis.
    Lancet. 1969 Aug 16;2(7616):386 PMID: 4183996
  6. Glucose-6-phosphate dehydrogenase.
    Adv Hum Genet. 1971;2:1-60 PMID: 4950476
Article Info
Journal
American journal of human genetics
Abbr.
Am J Hum Genet
ISSN
0002-9297
Published
1978-01-00
Pages
80-4
Language
English
Region
United States
NLM ID
0370475
PMCID
PMC1685467
Subset
IM
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