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Literature DB >> 3471705

Two sisters with a distal deletion at the Xq26/Xq27 interface: DNA studies indicate that the gene locus for factor IX is present.

C Schwartz, N Fitch, M C Phelan, C L Richer, R Stevenson.

Abstract

Two sisters with premature menopause and a small deletion of the long arm of one of their X chromosomes [del (X)(pter----q26.3:)] were investigated with polymorphic DNA probes near the breakpoint. The deleted chromosome retained the factor IX (F9) locus and the loci DXS51 (52A) and DXS100 (pX45h), which are proximal to F9. However, the factor VIII (F8) locus was not present, nor were two loci tightly linked to this locus, DXS52 (St14) and DXS15 (DX13). This deletion refines the location of the F9 locus to Xq26 or to the interface Xq26/Xq27, thus placing it more proximally than has been previously reported. The DNA obtained from these patients should be valuable in the mapping of future probes derived from this region of the X chromosome.

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Year: 1987 PMID： 3471705 DOI： 10.1007/BF00283050

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

34 in total

1. Linkage studies of X-linked mental retardation: high frequency of recombination in the telomeric region of the human X chromosome (fragile site/linkage/recombination/X chromosome).

Authors: K E Davies; M G Mattei; J F Mattei; H Veenema; S McGlade; K Harper; N Tommerup; K B Nielsen; M Mikkelsen; P Beighton
Journal: Hum Genet Date: 1985 Impact factor: 4.132

2. DNA linkage studies in the fragile X syndrome suggest genetic heterogeneity.

Authors: W T Brown; A C Gross; C B Chan; E C Jenkins
Journal: Am J Med Genet Date: 1986 Jan-Feb

3. 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

4. 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

5. Regional localization of the human factor IX gene by molecular hybridization.

Authors: P F Chance; K A Dyer; K Kurachi; S Yoshitake; H H Ropers; P Wieacker; S M Gartler
Journal: Hum Genet Date: 1983 Impact factor: 4.132

6. More precise localization of the human factor IX gene by in situ hybridization.

Authors: S Quirk; W G Chou; R Polakowska; S B Zain; F E Young; R A Doherty
Journal: Cytogenet Cell Genet Date: 1985

7. Localization by in situ hybridization of the coagulation factor IX gene and of two polymorphic DNA probes with respect to the fragile X site.

Authors: M G Mattei; M A Baeteman; R Heilig; I Oberlé; K Davies; J L Mandel; J F Mattei
Journal: Hum Genet Date: 1985 Impact factor: 4.132

8. Genetic analysis of the fragile-X mental retardation syndrome with two flanking polymorphic DNA markers.

Authors: I Oberlé; R Heilig; J P Moisan; C Kloepfer; G M Mattéi; J F Mattéi; J Boué; U Froster-Iskenius; P A Jacobs; G M Lathrop
Journal: Proc Natl Acad Sci U S A Date: 1986-02 Impact factor: 11.205

9. Close linkage of fragile X-mental retardation syndrome to haemophilia B and transmission through a normal male.

Authors: G Camerino; M G Mattei; J F Mattei; M Jaye; J L Mandel
Journal: Nature Date: 1983 Dec 15-21 Impact factor: 49.962

10. The human genes for hemophilia A and hemophilia B flank the X chromosome fragile site at Xq27.3.

Authors: M Purrello; B Alhadeff; D Esposito; P Szabo; M Rocchi; M Truett; F Masiarz; M Siniscalco
Journal: EMBO J Date: 1985-03 Impact factor: 11.598

9 in total

1. Microdissection of the fragile X region.

Authors: R N MacKinnon; M C Hirst; M V Bell; J E Watson; U Claussen; H J Ludecke; G Senger; B Horsthemke; K E Davies
Journal: Am J Hum Genet Date: 1990-08 Impact factor: 11.025

2. Unusual X chromosome inactivation in a mentally retarded girl with an interstitial deletion Xq27: implications for the fragile X syndrome.

Authors: M Schmidt; A Certoma; D Du Sart; P Kalitsis; M Leversha; K Fowler; L Sheffield; I Jack; D M Danks
Journal: Hum Genet Date: 1990-03 Impact factor: 4.132

3. Detection of submicroscopic deletions in band 17p13 in patients with the Miller-Dieker syndrome.

Authors: C E Schwartz; J P Johnson; B Holycross; T M Mandeville; T S Sears; E A Graul; J C Carey; R J Schroer; M C Phelan; J Szollar
Journal: Am J Hum Genet Date: 1988-11 Impact factor: 11.025

4. Further evidence localising the gene for Hunter's syndrome to the distal region of the X chromosome long arm.

Authors: S H Roberts; M Upadhyaya; M Sarfarazi; P S Harper
Journal: J Med Genet Date: 1989-05 Impact factor: 6.318

5. The parental origin and mechanism of formation of three dicentric X chromosomes.

Authors: M C Phelan; L A Prouty; R E Stevenson; P N Howard-Peebles; D C Page; C E Schwartz
Journal: Hum Genet Date: 1988-09 Impact factor: 4.132

6. Deletion (X)(q26.1-->q28) in a proband and her mother: molecular characterization and phenotypic-karyotypic deductions.

Authors: A T Tharapel; K P Anderson; J L Simpson; P R Martens; R S Wilroy; J C Llerena; C E Schwartz
Journal: Am J Hum Genet Date: 1993-03 Impact factor: 11.025