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Literature DB >> 2893549

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

B Arveiler¹, I Oberlé, A Vincent, M H Hofker, P L Pearson, J L Mandel.

Abstract

We have characterized and genetically mapped new polymorphic DNA markers in the q27-q28 region of the X chromosome. New informative RFLPs have been found for DXS105, DXS115, and DXS152. In particular, heterozygosity at the DXS105 locus has been increased from 25% to 52%. We have shown that DXS105 and DXS152 are contained within a 40-kb region. A multipoint linkage analysis was performed in fragile-X families and in large normal families from the Centre d'Etudes du Polymorphisme Humain (CEPH). This has allowed us to establish the order centromere-DXS144-DXS51-DXS102-F9-DXS105-FRAX A-(F8, DXS15, DXS52, DXS115). DXS102 is close to the hemophilia-B locus (z[theta] = 13.6 at theta = .02) and might thus be used as an alternative probe for diagnosis in Hemophila-B families not informative for intragenic RFLPs. DXS105 is 8% recombination closer to the fragile-X locus than F9 (z[theta] = 14.6 at theta = .08 for the F9-DXS105 linkage) and should thus be a better marker for analysis of fragile-X families. However, the DXS105 locus appears to be still loosely linked to the fragile-X locus in some families. The multipoint estimation for recombination between DXS105 and FRAXA is .16 in our set of data. Our data indicate that the region responsible for the heterogeneity in recombination between F9 and the fragile-X locus is within the DXS105-FRAXA interval.

Entities: Disease Gene

Mesh：

Substances：
Genetic Markers

Year: 1988 PMID： 2893549 PMCID： PMC1715257

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

26 in total

1. 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

2. 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

3. Easy calculations of lod scores and genetic risks on small computers.

Authors: G M Lathrop; J M Lalouel
Journal: Am J Hum Genet Date: 1984-03 Impact factor: 11.025

4. Isolation of probes detecting restriction fragment length polymorphisms from X chromosome-specific libraries: potential use for diagnosis of Duchenne muscular dystrophy.

Authors: M H Hofker; M C Wapenaar; N Goor; E Bakker; G J van Ommen; P L Pearson
Journal: Hum Genet Date: 1985 Impact factor: 4.132

5. Genetic screening for hemophilia A (classic hemophilia) with a polymorphic DNA probe.

Authors: I Oberle; G Camerino; R Heilig; L Grunebaum; J P Cazenave; C Crapanzano; P M Mannucci; J L Mandel
Journal: N Engl J Med Date: 1985-03-14 Impact factor: 91.245

6. Further segregation analysis of the fragile X syndrome with special reference to transmitting males.

Authors: S L Sherman; P A Jacobs; N E Morton; U Froster-Iskenius; P N Howard-Peebles; K B Nielsen; M W Partington; G R Sutherland; G Turner; M Watson
Journal: Hum Genet Date: 1985 Impact factor: 4.132

7. Multilocus linkage analysis in humans: detection of linkage and estimation of recombination.

Authors: G M Lathrop; J M Lalouel; C Julier; J Ott
Journal: Am J Hum Genet Date: 1985-05 Impact factor: 11.025

8. 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

9. Multipoint genetic mapping of the Xq26-q28 region in families with fragile X mental retardation and in normal families reveals tight linkage of markers in q26-q27.

Authors: I Oberlé; G Camerino; K Wrogemann; B Arveiler; A Hanauer; E Raimondi; J L Mandel
Journal: Hum Genet Date: 1987-09 Impact factor: 4.132

10. Cytological mapping of the human glucose-6-phosphate dehydrogenase gene distal to the fragile-X site suggests a high rate of meiotic recombination across this site.

Authors: P Szabo; M Purrello; M Rocchi; N Archidiacono; B Alhadeff; G Filippi; D Toniolo; G Martini; L Luzzatto; M Siniscalco
Journal: Proc Natl Acad Sci U S A Date: 1984-12 Impact factor: 11.205

22 in total

1. Estimating the stability of the proposed imprinted state of the fragile-X mutation when transmitted by females.

Authors: P J Follette; C D Laird
Journal: Hum Genet Date: 1992-01 Impact factor: 4.132

2. Improved carrier detection of haemophilia A using novel RFLPs at the DXS115 (767) locus.

Authors: P Jedlicka; S Greer; D S Millar; C B Grundy; E Jenkins; M Mitchell; R S Mibashan; V V Kakkar; D N Cooper
Journal: Hum Genet Date: 1990-08 Impact factor: 4.132

3. Characterization of a deletion at Xq27-q28 associated with unbalanced inactivation of the nonmutant X chromosome.

Authors: J T Clarke; P J Wilson; C P Morris; J J Hopwood; R I Richards; G R Sutherland; P N Ray
Journal: Am J Hum Genet Date: 1992-08 Impact factor: 11.025

4. 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