Literature DB >> 23105343

Analysis of Bcl I and Xba I polymorphism in factor VIII gene to detect carriers of haemophilia a in Andhra Pradesh.

P Aruna Prabhavathi1, Tajamul Hussain, G N Mallikarjuna Rao, Mp Js Anandaraj.   

Abstract

The efficacy of two intragenic polymorphic markers of factor VIII gene has been examined in Andhra Pradesh population with a view to confirm/revise the strategy for carrier detection that would be precise and economical. The haemophilia A carrier was detected using Bcl I and Xba I polymorphic sites in intron 18 and 22 respectively. The cumulative efficiency of these two sites for detection of carriers is 100% since all 15 families tested were informative for one of these polymorphisms, thus confirming their usefulness for factor VIII gene mutations found in Andhra Pradesh.

Entities:  

Keywords:  Bcl I and Xba I polymorphisms and carrier detection; Haemophilia A; PCR

Year:  2002        PMID： 23105343      PMCID： PMC3453724          DOI： 10.1007/BF02867948

Source DB:  PubMed          Journal:  Indian J Clin Biochem        ISSN： 0970-1915


  9 in total

1.  Factor VIII gene polymorphisms in the Asian Indian population.

Authors:  M R Chowdhury; F H Herrmann; W Schroder; C T Lambert; M R Lalloz; M Layton; H K Kumbnani; M Kabra; P S Menon; I C Verma
Journal:  Haemophilia       Date:  2000-11       Impact factor: 4.287

2.  MspI polymorphic site in intron 22 of the factor VIII gene in the Japanese population.

Authors:  H Inaba; M Fujimaki; H H Kazazian; S E Antonarakis
Journal:  Hum Genet       Date:  1990-01       Impact factor: 4.132

3.  A new polymorphism in the factor VIII gene for prenatal diagnosis of hemophilia A.

Authors:  K L Wion; E G Tuddenham; R M Lawn
Journal:  Nucleic Acids Res       Date:  1986-06-11       Impact factor: 16.971

4.  An improved method for prenatal diagnosis of genetic diseases by analysis of amplified DNA sequences. Application to hemophilia A.

Authors:  S C Kogan; M Doherty; J Gitschier
Journal:  N Engl J Med       Date:  1987-10-15       Impact factor: 91.245

5.  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

6.  Factor VIII and IX gene polymorphisms and carrier analysis in Indian population.

Authors:  S Shetty; K Ghosh; A Pathare; R Colah; S Badakare; D Mohanty
Journal:  Am J Hematol       Date:  1997-04       Impact factor: 10.047

Review 7.  The molecular basis of haemophilia A and B.

Authors:  F Giannelli; P M Green
Journal:  Baillieres Clin Haematol       Date:  1996-06

8.  The utility of a HindIII polymorphism of factor VIII examined by rapid DNA analysis.

Authors:  J B Graham; G R Kunkel; D M Fowlkes; S T Lord
Journal:  Br J Haematol       Date:  1990-09       Impact factor: 6.998

9.  St14 (DXS52) VNTR in the Chinese population and its application to genetic diagnosis of haemophilia A.

Authors:  X Wang; X Chu; C Ruan
Journal:  Nouv Rev Fr Hematol       Date:  1995
  9 in total

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