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Literature DB >> 2877941

De novo mutation in hemophilia A established by DNA haplotype analysis and precluding prenatal diagnosis.

M Delpech, N Deburgrave, M Baudis, P Maissonneuve, J M Bardin, Y Sultan, J C Kaplan.

Abstract

In a family with a single case of hemophilia A genetic counselling was requested by the pregnant aunt of the propositus. The haplotypes generated by two extra-genic RFLPs, at DXS52 (St14/Taq1) and DXS15 (DX13/BglII), and one intragenic RFLP in F8C (647/BclI) indicated that: she was not a carrier; the case of hemophilia resulted from a de novo mutation in a grandfather's gamete.

Entities: Disease

Mesh：

Substances：

Year: 1986 PMID： 2877941 DOI： 10.1007/bf00282556

Source DB: PubMed Journal: Hum Genet ISSN： 0340-6717 Impact factor: 4.132

15 in total

1. Detection of specific sequences among DNA fragments separated by gel electrophoresis.

Authors: E M Southern
Journal: J Mol Biol Date: 1975-11-05 Impact factor: 5.469

2. The telomeric region of the human X chromosome long arm: presence of a highly polymorphic DNA marker and analysis of recombination frequency.

Authors: I Oberlé; D Drayna; G Camerino; R White; J L Mandel
Journal: Proc Natl Acad Sci U S A Date: 1985-05 Impact factor: 11.205

De novo mutation in hemophilia A established by DNA haplotype analysis and precluding prenatal diagnosis.

1. Detection of specific sequences among DNA fragments separated by gel electrophoresis.

2. The telomeric region of the human X chromosome long arm: presence of a highly polymorphic DNA marker and analysis of recombination frequency.

3. Linked and intragenic probes for haemophilia A.

4. Antenatal diagnosis and carrier detection of haemophilia A using factor VIII gene probe.

5. Characterization of the human factor VIII gene.

6. Genetic mapping and diagnosis of haemophilia A achieved through a BclI polymorphism in the factor VIII gene.

7. Prenatal diagnosis of haemophilia A by factor VIII gene analysis.

8. A clinically useful DNA probe closely linked to haemophilia A.

9. First trimester prenatal diagnosis and detection of carriers of haemophilia A using the linked DNA probe DX13.

10. Hemophilia A. Detection of molecular defects and of carriers by DNA analysis.

Review 1. Diagnosis of genetic disease using recombinant DNA. Supplement.