Literature DB >> 2883108

A DNA marker closely linked to the factor IX (haemophilia B) gene.

L Mulligan, J J Holden, B N White.   

Abstract

We have isolated a DNA segment, pX58dIIIc, from an X-chromosome library which identifies an SstI restriction fragment length polymorphism (RFLP) at locus DXS99. Linkage analysis in six informative families has shown that the DXS99 locus lies close to the factor IX gene (F9). No recombination was detected between these loci in 39 informative meioses (Z = 9.79, theta = 0.0). Therefore, DXS99 will be useful as a DNA marker for the assessment of carrier status in families with haemophilia B where intragenic markers are not informative. Heterozygosity at DXS99 is approximately 50% and, in conjunction with the RFLPs at F9, 90% of females at risk for being haemophilia B carriers should be diagnosed.

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Year:  1987        PMID： 2883108     DOI： 10.1007/bf00284113

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


  20 in total

1.  A new MspI restriction fragment length polymorphism in the hemophilia B locus.

Authors:  G Camerino; I Oberlé; D Drayna; J L Mandel
Journal:  Hum Genet       Date:  1985       Impact factor: 4.132

2.  Use of a BamHI polymorphism in the factor IX gene for the determination of hemophilia B carrier status.

Authors:  C W Hay; K A Robertson; S L Yong; A R Thompson; G H Growe; R T MacGillivray
Journal:  Blood       Date:  1986-05       Impact factor: 22.113

3.  Carrier detection in haemophilia B using two further intragenic restriction fragment length polymorphisms.

Authors:  P R Winship; D S Anson; C R Rizza; G G Brownlee
Journal:  Nucleic Acids Res       Date:  1984-12-11       Impact factor: 16.971

4.  Regional localization on the human X chromosome and polymorphism of the coagulation factor IX gene (hemophilia B locus).

Authors:  G Camerino; K H Grzeschik; M Jaye; H De La Salle; P Tolstoshev; J P Lecocq; R Heilig; J L Mandel
Journal:  Proc Natl Acad Sci U S A       Date:  1984-01       Impact factor: 11.205

5.  Genetic mapping of the human X chromosome by using restriction fragment length polymorphisms.

Authors:  D Drayna; K Davies; D Hartley; J L Mandel; G Camerino; R Williamson; R White
Journal:  Proc Natl Acad Sci U S A       Date:  1984-05       Impact factor: 11.205

6.  A polymorphic DNA marker genetically linked to Huntington's disease.

Authors:  J F Gusella; N S Wexler; P M Conneally; S L Naylor; M A Anderson; R E Tanzi; P C Watkins; K Ottina; M R Wallace; A Y Sakaguchi
Journal:  Nature       Date:  1983 Nov 17-23       Impact factor: 49.962

7.  The genetic linkage map of the human X chromosome.

Authors:  D Drayna; R White
Journal:  Science       Date:  1985-11-15       Impact factor: 47.728

8.  Linkage analysis of a DNA marker localized to 20p12 and multiple endocrine neoplasia type 2A.

Authors:  P J Goodfellow; B N White; J J Holden; A M Duncan; E V Sears; H S Wang; L Berlin; K K Kidd; N E Simpson
Journal:  Am J Hum Genet       Date:  1985-09       Impact factor: 11.025

9.  The genetic distance between the coagulation factor IX gene and the locus for the fragile X syndrome: clinical implications.

Authors:  C J Forster-Gibson; L M Mulligan; M W Partington; N E Simpson; J J Holden; B N White
Journal:  J Neurogenet       Date:  1985-06       Impact factor: 1.250

10.  Localization of X-linked dominant Charcot-Marie-Tooth disease (CMT 2) to Xq13.

Authors:  J Beckett; J J Holden; N E Simpson; B N White; P M MacLeod
Journal:  J Neurogenet       Date:  1986-07       Impact factor: 1.250
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  10 in total

1.  Genetic mapping of two new DNA markers in Xq26-q28 relative to the fragile-X syndrome locus.

Authors:  R Sood; L M Mulligan; R Poon; B N White; J J Holden
Journal:  Am J Hum Genet       Date:  1990-09       Impact factor: 11.025

2.  Diagnosis of haemophilia B using the polymerase chain reaction.

Authors:  J Reiss; U Neufeldt; K Wieland; B Zoll
Journal:  Blut       Date:  1990-01

3.  Molecular studies of haemophilia B in Sweden. Identification of patients with total deletion of the factor IX gene and without inhibitory antibodies.

Authors:  C Wadelius; M Blombäck; U Pettersson
Journal:  Hum Genet       Date:  1988-12       Impact factor: 4.132

4.  Genetic mapping of the Xq27-q28 region: new RFLP markers useful for diagnostic applications in fragile-X and hemophilia-B families.

Authors:  B Arveiler; I Oberlé; A Vincent; M H Hofker; P L Pearson; J L Mandel
Journal:  Am J Hum Genet       Date:  1988-02       Impact factor: 11.025

5.  Fine structure mapping of the hypoxanthine-guanine phosphoribosyltransferase (HPRT) gene region of the human X chromosome (Xq26).

Authors:  J A Nicklas; T C Hunter; J P O'Neill; R J Albertini
Journal:  Am J Hum Genet       Date:  1991-08       Impact factor: 11.025

6.  Single nucleotide primer extension to detect genetic diseases: experimental application to hemophilia B (factor IX) and cystic fibrosis genes.

Authors:  M N Kuppuswamy; J W Hoffmann; C K Kasper; S G Spitzer; S L Groce; S P Bajaj
Journal:  Proc Natl Acad Sci U S A       Date:  1991-02-15       Impact factor: 11.205

7.  A complete deletion of the factor IX gene and new TaqI variant in a hemophilia B kindred.

Authors:  S A Taylor; D P Lillicrap; V Blanchette; A R Giles; J J Holden; B N White
Journal:  Hum Genet       Date:  1988-07       Impact factor: 4.132

8.  Mapping the mutation causing the X-linked lymphoproliferative syndrome in relation to restriction fragment length polymorphisms on Xq.

Authors:  J C Skare; J L Sullivan; A Milunsky
Journal:  Hum Genet       Date:  1989-07       Impact factor: 4.132

Review 9.  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

10.  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
  10 in total

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