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Literature DB >> 3502701

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.

I Oberlé, G Camerino, K Wrogemann, B Arveiler, A Hanauer, E Raimondi, J L Mandel.

Abstract

The q26-q28 region of the human X chromosome contains several important disease loci, including the locus for the fragile X mental retardation syndrome. We have characterized new polymorphic DNA markers useful for the genetic mapping of this region. They include a new Bell restriction fragment length polymorphism (RFLP) detected by the probe St14-1 (DXS52) and which may therefore be of diagnostic use in hemophilia A families. A linkage analysis was performed in fragile X families and in large normal families from the Centre d'Etude du Polymorphisme Humain (CEPH) by using seven polymorphic loci located in Xq26-q28. This multipoint linkage study allowed us to establish the order centromere-DXS100-DXS86-DXS144-DXS51-F9-FRAX+ ++-(DXS52-DXS15). Together with other studies, our results define a cluster of nine loci that are located in Xq26-q27 and map within a 10 to 15 centimorgan region. This contrasts with the paucity of markers (other than the fragile X locus) between the F9 gene in q27 and the G6PD cluster in q28, which are separated by about 30% recombination.

Entities: Disease Gene Species

Mesh：

Substances：
Genetic Markers

Year: 1987 PMID： 3502701 DOI： 10.1007/BF00284716

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

24 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. 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

3. Characterization of a set of X-linked sequences and of a panel of somatic cell hybrids useful for the regional mapping of the human X chromosome.

Authors: I Oberlé; G Camerino; C Kloepfer; J P Moisan; K H Grzeschik; B Hellkuhl; M C Hors-Cayla; N Van Cong; D Weil; J L Mandel
Journal: Hum Genet Date: 1986-01 Impact factor: 4.132

Review 4. The prenatal detection of the fragile X chromosome: review of recent experience.

Authors: E C Jenkins; W T Brown; M G Wilson; M S Lin; O S Alfi; E R Wassman; J Brooks; C J Duncan; A Masia; M S Krawczun
Journal: Am J Med Genet Date: 1986 Jan-Feb

5. Report of the Committee on Human Gene Mapping by Recombinant DNA Techniques.

Authors: H F Willard; M H Skolnick; P L Pearson; J L Mandel
Journal: Cytogenet Cell Genet Date: 1985

6. 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

7. 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

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

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

9. Genetic mapping and diagnosis of haemophilia A achieved through a BclI polymorphism in the factor VIII gene.

Authors: J Gitschier; D Drayna; E G Tuddenham; R L White; R M Lawn
Journal: Nature Date: 1985 Apr 25-May 1 Impact factor: 49.962

10. 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

25 in total

Review 1. Comparative map for mice and humans.

Authors: J H Nadeau; M T Davisson; D P Doolittle; P Grant; A L Hillyard; M R Kosowsky; T H Roderick
Journal: Mamm Genome Date: 1992 Impact factor: 2.957

2. 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

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

Review 4. Comparative map for mice and humans.

Authors: J H Nadeau; M T Davisson; D P Doolittle; P Grant; A L Hillyard; M Kosowsky; T H Roderick
Journal: Mamm Genome Date: 1991 Impact factor: 2.957

5. Investigation of factor VIII:C gene restriction fragment length polymorphisms and search for deletions in hemophiliac subjects in Algeria.

Authors: K Nafa; F Meriane; A Reghis; M Benabadji; F Demenais; M Guilloud-Bataille; Y Sultan; J C Kaplan; M Delpech
Journal: Hum Genet Date: 1990-04 Impact factor: 4.132

6. Dissociation between mental retardation and fragile site expression in a family with fragile X-linked mental retardation.

Authors: M A Voelckel; M G Mattei; C N'Guyen; N Philip; F Birg; J F Mattei
Journal: Hum Genet Date: 1988-12 Impact factor: 4.132