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Literature DB >> 3472214

Linkage of the Wiskott-Aldrich syndrome with polymorphic DNA sequences from the human X chromosome.

Abstract

The Wiskott-Aldrich syndrome (WAS) is one of several human immunodeficiency diseases inherited as an X-linked trait. The location of WAS on the X chromosome is unknown. We have studied 10 kindreds segregating for WAS for linkage with cloned, polymorphic DNA markers and have demonstrated significant linkage between WAS and two loci, DXS14 and DXS7, that map to the proximal short arm of the X chromosome. Maximal logarithm of odds (lod scores) for WAS-DXS14 and WAS-DXS7 were 4.29 (at theta = 0.03) and 4.12 (at theta = 0.00), respectively. Linkage data between WAS and six marker loci indicate the order of the loci to be (DXYS1-DXS1)-WAS-DXS14-DXS7-(DXS84-OTC). These results suggest that the WAS locus lies within the pericentric region of the X chromosome and provide an initial step toward identifying the WAS gene and improving the genetic counseling of WAS families.

Entities: Disease Species

Mesh：

Substances：
DNA

Year: 1987 PMID： 3472214 PMCID： PMC304884 DOI： 10.1073/pnas.84.10.3430

Source DB: PubMed Journal: Proc Natl Acad Sci U S A ISSN： 0027-8424 Impact factor: 11.205

28 in total

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20 in total

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Journal: Springer Semin Immunopathol Date: 1998

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6. Linkage studies of the Wiskott-Aldrich syndrome: polymorphisms at TIMP and the X chromosome centromere are informative markers for genetic prediction.

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Journal: Hum Genet Date: 1989-10 Impact factor: 4.132

7. A novel WASP gene mutation in a Chinese boy with Wiskott-Aldrich syndrome.

Authors: Hongtao Yu; Ting Liu; Wentong Meng; Li Hou
Journal: Int J Hematol Date: 2010-08-04 Impact factor: 2.490

8. Identification of mutations in the Wiskott-Aldrich syndrome gene and characterization of a polymorphic dinucleotide repeat at DXS6940, adjacent to the disease gene.

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Journal: Hum Genet Date: 1992-05 Impact factor: 4.132