Literature DB >> 3131627

A somatic mosaic for haemophilia A detected at the DNA level.

M Higuchi1, L Kochhan, K Olek.   

Abstract

A partial gene deletion of about 1700 to 2000 bases spanning exon 3 and part of IVS-3 was identified in one patient with severe haemophilia A. Extensive DNA analysis of his family members revealed that the mother of the proband is a somatic mosaic for an abnormal factor VIII gene, because the defective gene could be identified in a considerable fraction of the leucocytes as well as of the cultured fibroblasts of the mother. This observation is important in estimating the recurrence risk in families of sporadic cases.

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Year:  1988        PMID： 3131627

Source DB:  PubMed          Journal:  Mol Biol Med        ISSN： 0735-1313


  18 in total

1.  Germinal mosaicism increases the recurrence risk for 'new' Duchenne muscular dystrophy mutations.

Authors:  E Bakker; H Veenema; J T Den Dunnen; C van Broeckhoven; P M Grootscholten; E J Bonten; G J van Ommen; P L Pearson
Journal:  J Med Genet       Date:  1989-09       Impact factor: 6.318

2.  Sex ratio of the mutation frequencies in haemophilia A: coagulation assays and RFLP analysis.

Authors:  A H Bröcker-Vriends; F R Rosendaal; J C van Houwelingen; E Bakker; G J van Ommen; J J van de Kamp; E Briët
Journal:  J Med Genet       Date:  1991-10       Impact factor: 6.318

3.  Germ-line mosaicism for a valine-to-methionine substitution at residue 553 in the glycoprotein Ib-binding domain of von Willebrand factor, causing type IIB von Willebrand disease.

Authors:  E W Murray; A R Giles; D Lillicrap
Journal:  Am J Hum Genet       Date:  1992-01       Impact factor: 11.025

4.  Germinal mosaicism and risk calculation in X-linked diseases.

Authors:  M Jeanpierre
Journal:  Am J Hum Genet       Date:  1992-05       Impact factor: 11.025

5.  Molecular analysis of hemophilia A mutations in the Finnish population.

Authors:  B Levinson; A E Lehesjoki; A de la Chapelle; J Gitschier
Journal:  Am J Hum Genet       Date:  1990-01       Impact factor: 11.025

6.  Identification of a mutation in the gene encoding the alpha subunit of the stimulatory G protein of adenylyl cyclase in McCune-Albright syndrome.

Authors:  W F Schwindinger; C A Francomano; M A Levine
Journal:  Proc Natl Acad Sci U S A       Date:  1992-06-01       Impact factor: 11.205

7.  Somatic mosaicism in hemophilia A: a fairly common event.

Authors:  M Leuer; J Oldenburg; J M Lavergne; M Ludwig; A Fregin; A Eigel; R Ljung; A Goodeve; I Peake; K Olek
Journal:  Am J Hum Genet       Date:  2001-06-14       Impact factor: 11.025

8.  Germ-line origins of mutation in families with hemophilia B: the sex ratio varies with the type of mutation.

Authors:  R P Ketterling; E Vielhaber; C D Bottema; D J Schaid; M P Cohen; C L Sexauer; S S Sommer
Journal:  Am J Hum Genet       Date:  1993-01       Impact factor: 11.025

9.  Haemophilia A: database of nucleotide substitutions, deletions, insertions and rearrangements of the factor VIII gene.

Authors:  E G Tuddenham; D N Cooper; J Gitschier; M Higuchi; L W Hoyer; A Yoshioka; I R Peake; R Schwaab; K Olek; H H Kazazian
Journal:  Nucleic Acids Res       Date:  1991-09-25       Impact factor: 16.971

10.  Haemophilia A: database of nucleotide substitutions, deletions, insertions and rearrangements of the factor VIII gene, second edition.

Authors:  E G Tuddenham; R Schwaab; J Seehafer; D S Millar; J Gitschier; M Higuchi; S Bidichandani; J M Connor; L W Hoyer; A Yoshioka
Journal:  Nucleic Acids Res       Date:  1994-09       Impact factor: 16.971
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