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PMID: 2411652 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't

A new MspI restriction fragment length polymorphism in the hemophilia B locus.

Human genetics ·Vol. 71 ·No. 1 ·1985-00-00 ·Pages 79-81

Camerino G, Oberlé I, Drayna D, Mandel JL

Abstract

Using a partial cDNA probe for human coagulation factor IX, we have detected a new restriction fragment length polymorphism in human DNA digested with MspI. The frequency of the minor allele is 0.20 +/- 0.05 and average heterozygosity is about 0.32. The MspI RFLP is in strong linkage disequilibrium with the TaqI RFLP previously described, but should nevertheless be useful in segregation analysis in case of homozygosity for the TaqI minor allele.

MeSH Terms
Alleles DNA/genetics DNA Restriction Enzymes Deoxyribonuclease HpaII Female Gene Frequency Genetic Linkage Genetic Markers Hemophilia B/genetics Humans Male Nucleic Acid Hybridization Pedigree Polymorphism, Genetic
Chemicals
Genetic Markers DNA DNA Restriction Enzymes Deoxyribonuclease HpaII
Authors & Affiliations
4 authors, click to expand affiliations / ORCID
Camerino G
Oberlé I
Drayna D
Mandel J L
References (11)
11 references, click to expand
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    Proc Natl Acad Sci U S A. 1984 May;81(9):2836-9 PMID: 6326147
  2. Regional localization on the human X chromosome and polymorphism of the coagulation factor IX gene (hemophilia B locus).
    Proc Natl Acad Sci U S A. 1984 Jan;81(2):498-502 PMID: 6320191
  3. Nonrandom association of polymorphic restriction sites in the beta-globin gene cluster.
    Proc Natl Acad Sci U S A. 1982 Jan;79(1):137-41 PMID: 6275383
  4. Assignment of the haemophilia B (factor IX) locus to the q26-qter region of the X chromosome.
    Ann Hum Genet. 1984 May;48(Pt 2):145-52 PMID: 6331274
  5. Exclusion of haemophilia B in male fetus by chorionic villus biopsy.
    Lancet. 1984 Oct 20;2(8408):932 PMID: 6148652
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    Lancet. 1985 Apr 13;1(8433):871 PMID: 2858726
  7. Characterisation and use of an intragenic polymorphic marker for detection of carriers of haemophilia B (factor IX deficiency).
    Lancet. 1984 Feb 4;1(8371):239-41 PMID: 6142992
  8. The gene structure of human anti-haemophilic factor IX.
    EMBO J. 1984 May;3(5):1053-60 PMID: 6329734
  9. Regional localization of the human factor IX gene by molecular hybridization.
    Hum Genet. 1983;65(2):207-8 PMID: 6686210
  10. Close linkage of fragile X-mental retardation syndrome to haemophilia B and transmission through a normal male.
    Nature. 1983 Dec 15-21;306(5944):701-4 PMID: 6689201
  11. Isolation of a human anti-haemophilic factor IX cDNA clone using a unique 52-base synthetic oligonucleotide probe deduced from the amino acid sequence of bovine factor IX.
    Nucleic Acids Res. 1983 Apr 25;11(8):2325-35 PMID: 6687940
Article Info
Journal
Human genetics
Abbr.
Hum Genet
ISSN
0340-6717
DOI
10.1007/BF00295673
Published
1985-00-00
Pages
79-81
Language
English
Region
Germany
NLM ID
7613873
Subset
IM
External Links
PubMed source DOI: 10.1007/BF00295673 View journal details
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