Literature DB >> 1675686

Restriction fragment length polymorphisms associated with the factor VIII and factor IX genes in Polynesians.

N S Van-de-Water1, D Ridgway, P A Ockelford.   

Abstract

New Zealand Maoris (72 X chromosomes) have been compared with Pacific Island Polynesians (121 X chromosomes) and Caucasian New Zealanders (51 X chromosomes) as a control group to determine the allelic frequency of six RFLPs associated with the genes for two X linked diseases (haemophilia A and haemophilia B). RFLPs examined were BclI, XbaI, and BglI within the factor VIII gene, the factor VIII extragenic TaqI system, and the factor IX intragenic TaqI and XmnI sites. The information obtained facilitates the design of strategies for both carrier detection and prenatal diagnosis of haemophilia A within these groups. Strong linkage disequilibrium was observed between the factor VIII BclI and XbaI sites in Polynesians. Genetic counselling for Polynesians with haemophilia B continues, however, to rely on phenotypic diagnosis. The RFLP data from the two separate loci on the X chromosome in Polynesians show similarities with Chinese and Japanese populations, reinforcing theories of an early Polynesian ancestry originating in east Asia.

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Year:  1991        PMID: 1675686      PMCID: PMC1016800          DOI: 10.1136/jmg.28.3.171

Source DB:  PubMed          Journal:  J Med Genet        ISSN: 0022-2593            Impact factor:   6.318


  29 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.  Carrier detection in 50 haemophilia A kindred by means of three intragenic and two extragenic restriction fragment length polymorphisms.

Authors:  P Moodie; M B Liddell; I R Peake; A L Bloom
Journal:  Br J Haematol       Date:  1988-09       Impact factor: 6.998

3.  Direct carrier testing in 14 families with haemophilia B.

Authors:  C D Bottema; D D Koeberl; S S Sommer
Journal:  Lancet       Date:  1989-09-02       Impact factor: 79.321

4.  Intragenic Factor IX restriction site polymorphism in hemophilia B variants.

Authors:  H J Hassan; M Orlando; A Leonardi; C Chelucci; R Guerriero; P M Mannucci; G Mariani; C Peschle
Journal:  Blood       Date:  1985-02       Impact factor: 22.113

5.  Application of molecular genetics to prenatal diagnosis and carrier detection in the hemophilias: some limitations.

Authors:  J B Graham; P P Green; R A McGraw; L M Davis
Journal:  Blood       Date:  1985-10       Impact factor: 22.113

6.  Functionally important regions of the factor IX gene have a low rate of polymorphism and a high rate of mutation in the dinucleotide CpG.

Authors:  D D Koeberl; C D Bottema; J M Buerstedde; S S Sommer
Journal:  Am J Hum Genet       Date:  1989-09       Impact factor: 11.025

7.  Restriction fragment length polymorphisms associated with factor VIII:C gene in Chinese.

Authors:  V Chan; T K Chan; V W Liu; A C Wong
Journal:  Hum Genet       Date:  1988-06       Impact factor: 4.132

8.  Direct detection of point mutations by mismatch analysis: application to haemophilia B.

Authors:  A J Montandon; P M Green; F Giannelli; D R Bentley
Journal:  Nucleic Acids Res       Date:  1989-05-11       Impact factor: 16.971

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

Authors:  S E Antonarakis; P G Waber; S D Kittur; A S Patel; H H Kazazian; M A Mellis; R B Counts; G Stamatoyannopoulos; E J Bowie; D N Fass
Journal:  N Engl J Med       Date:  1985-10-03       Impact factor: 91.245

10.  Molecular pathology of haemophilia B.

Authors:  P M Green; D R Bentley; R S Mibashan; I M Nilsson; F Giannelli
Journal:  EMBO J       Date:  1989-04       Impact factor: 11.598

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  3 in total

Review 1.  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

2.  Testing migration patterns and estimating founding population size in Polynesia by using human mtDNA sequences.

Authors:  R P Murray-McIntosh; B J Scrimshaw; P J Hatfield; D Penny
Journal:  Proc Natl Acad Sci U S A       Date:  1998-07-21       Impact factor: 11.205

3.  Application of Indirect Linkage Analysis for Carrier Detection of Hemophilia A in Kurdistan Region of Iraq: Usefulness of Intron 18 BclI T>A, Intron 19 HindIII C>T, and IVS7 nt27 G>A Markers.

Authors:  Aveen M Raouf Abdulqader; Shwan Rachid; Ali Ibrahim Mohammed; Sarwar Noori Mahmood
Journal:  Clin Appl Thromb Hemost       Date:  2019 Jan-Dec       Impact factor: 2.389

  3 in total

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