Literature DB >> 2901224

Maternal duplication associated with gene deletion in sporadic hemophilia.

J Gitschier1.   

Abstract

Sporadic occurrences of X-linked disorders can give insights into mutagenesis in man. In a case of sporadic hemophilia, associated with a partial deletion of the factor VIII gene, an unexpected inheritance pattern of gene rearrangements was observed. The factor VIII gene was found to be partially duplicated in the hemophiliac's mother. A pedigree analysis indicates that the mother has contributed both aberrant genes as well as the normal gene to her offspring. One simple model for the evolution of the deletion in this family is that the duplication is the precursor to the deletion.

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Year:  1988        PMID： 2901224      PMCID： PMC1715375     

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


  22 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

3.  Genetic studies of the lac repressor. VII. On the molecular nature of spontaneous hotspots in the lacI gene of Escherichia coli.

Authors:  P J Farabaugh; U Schmeissner; M Hofer; J H Miller
Journal:  J Mol Biol       Date:  1978-12-25       Impact factor: 5.469

4.  Polymorphic DNA region adjacent to the 5' end of the human insulin gene.

Authors:  G I Bell; J H Karam; W J Rutter
Journal:  Proc Natl Acad Sci U S A       Date:  1981-09       Impact factor: 11.205

5.  Characterization of the human factor VIII gene.

Authors:  J Gitschier; W I Wood; T M Goralka; K L Wion; E Y Chen; D H Eaton; G A Vehar; D J Capon; R M Lawn
Journal:  Nature       Date:  1984 Nov 22-28       Impact factor: 49.962

6.  The structure and evolution of the human beta-globin gene family.

Authors:  A Efstratiadis; J W Posakony; T Maniatis; R M Lawn; C O'Connell; R A Spritz; J K DeRiel; B G Forget; S M Weissman; J L Slightom; A E Blechl; O Smithies; F E Baralle; C C Shoulders; N J Proudfoot
Journal:  Cell       Date:  1980-10       Impact factor: 41.582

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

Authors:  J Gitschier; D Drayna; E G Tuddenham; R L White; R M Lawn
Journal:  Nature       Date:  1985 Apr 25-May 1       Impact factor: 49.962

8.  Expression of active human factor VIII from recombinant DNA clones.

Authors:  W I Wood; D J Capon; C C Simonsen; D L Eaton; J Gitschier; B Keyt; P H Seeburg; D H Smith; P Hollingshead; K L Wion; E Delwart; E G Tuddenham; G A Vehar; R M Lawn
Journal:  Nature       Date:  1984 Nov 22-28       Impact factor: 49.962

9.  DNA sequencing with chain-terminating inhibitors.

Authors:  F Sanger; S Nicklen; A R Coulson
Journal:  Proc Natl Acad Sci U S A       Date:  1977-12       Impact factor: 11.205

10.  Detection of carriers of classic hemophilia using an immunologic assay for antihemophilic factor (factor 8().

Authors:  T S Zimmerman; O D Ratnoff; A S Littell
Journal:  J Clin Invest       Date:  1971-01       Impact factor: 14.808
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  25 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.  Germ-line mosaicism simulates genetic heterogeneity in Wiskott-Aldrich syndrome.

Authors:  B Arveiler; G de Saint-Basile; A Fischer; C Griscelli; J L Mandel
Journal:  Am J Hum Genet       Date:  1990-05       Impact factor: 11.025

6.  Molecular genetic analysis of factor X deficiency: gene deletion and germline mosaicism.

Authors:  K Wieland; D S Millar; C B Grundy; R S Mibashan; V V Kakkar; D N Cooper
Journal:  Hum Genet       Date:  1991-01       Impact factor: 4.132

7.  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

8.  Mutations and a polymorphism in the factor VIII gene discovered by denaturing gradient gel electrophoresis.

Authors:  S Kogan; J Gitschier
Journal:  Proc Natl Acad Sci U S A       Date:  1990-03       Impact factor: 11.205

9.  Complete ascertainment of intragenic copy number mutations (CNMs) in the CFTR gene and its implications for CNM formation at other autosomal loci.

Authors:  Sylvia Quemener; Jian-Min Chen; Nadia Chuzhanova; Caroline Bénech; Teresa Casals; Milan Macek; Thierry Bienvenu; Trudi McDevitt; Philip M Farrell; Ourida Loumi; Taieb Messaoud; Harry Cuppens; Garry R Cutting; Peter D Stenson; Karine Giteau; Marie-Pierre Audrézet; David N Cooper; Claude Férec
Journal:  Hum Mutat       Date:  2010-04       Impact factor: 4.878

Review 10.  Haemophilia: strategies for carrier detection and prenatal diagnosis.

Authors:  I R Peake; D P Lillicrap; V Boulyjenkov; E Briet; V Chan; E K Ginter; E M Kraus; R Ljung; P M Mannucci; K Nicolaides
Journal:  Bull World Health Organ       Date:  1993       Impact factor: 9.408
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