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Literature DB >> 1975476

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

R Sood¹, L M Mulligan, R Poon, B N White, J J Holden.

Abstract

We have characterized and genetically mapped two new DNA markers (DXS311 and DXS312) with respect to 10 existing loci in Xq26----Xq28 in a set of 15 families in which the fragile-X [fra(X)] syndrome was segregating. Two-point and multipoint linkage analyses were performed taking into account the incomplete penetrance of the fra(X) mutation. The most likely order on the basis of these data is centromere-DXS79-DXS10-DXS311-DXS86-(F9-DXS99 )-(DXS98-DXS312)-fra(X)-DXS52- DXS15-F8C-telomere. DXS98 and one of the new loci, DXS312, were found to be the proximal markers closest to the fra(X) locus. The order F9-(DXS98-DXS312)-fra(X) was found to be 5.9 x 10(4) times more likely than the order (DXS98-DXS312)-F9-fra(X).

Entities: Disease

Mesh：

Substances：

Year: 1990 PMID： 1975476 PMCID： PMC1683857

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

31 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. A new DNA marker tightly linked to the fragile X locus (FRAXA).

Authors: G K Suthers; D F Callen; V J Hyland; H M Kozman; E Baker; H Eyre; P S Harper; S H Roberts; M C Hors-Cayla; K E Davies
Journal: Science Date: 1989-12-08 Impact factor: 47.728

4. Estimation of the recombination fraction in human pedigrees: efficient computation of the likelihood for human linkage studies.

Authors: J Ott
Journal: Am J Hum Genet Date: 1974-09 Impact factor: 11.025

5. Analysis of the fragile-X chromosome: localization and detection of the fragile site in high resolution preparations.

Authors: M S Krawczun; E C Jenkins; W T Brown
Journal: Hum Genet Date: 1985 Impact factor: 4.132

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. Strategies for multilocus linkage analysis in humans.

Authors: G M Lathrop; J M Lalouel; C Julier; J Ott
Journal: Proc Natl Acad Sci U S A Date: 1984-06 Impact factor: 11.205

8. 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

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

1. The telomeric region of the human X chromosome long arm: presence of a highly polymorphic DNA marker and analysis of recombination frequency.

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).

3. A new DNA marker tightly linked to the fragile X locus (FRAXA).

4. Estimation of the recombination fraction in human pedigrees: efficient computation of the likelihood for human linkage studies.

5. Analysis of the fragile-X chromosome: localization and detection of the fragile site in high resolution preparations.

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

7. Strategies for multilocus linkage analysis in humans.

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

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

10. Genetic linkage heterogeneity in the fragile X syndrome.

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

2. Sensorineural deafness inherited as a tissue specific mitochondrial disorder.