Literature DB >> 1349583

Amplification of human polymorphic sites in the X-chromosomal region q21.33 to q24: DXS17, DXS87, DXS287, and alpha-galactosidase A.

R Kornreich1, K H Astrin, R J Desnick.   

Abstract

Methods for the PCR amplification of five polymorphic sites in the region Xq21.33 to Xq24 were developed and used to predict heterozygosity for Fabry disease in informative families. Clones containing polymorphic sites associated with DNA segments DXS17, DXS87, and DXS287, and the alpha-galactosidase A gene were isolated from genomic libraries. Surrounding nucleotide sequences and optimal conditions for amplification of each polymorphic site were determined. These amplifiable polymorphisms provided predictions of heterozygosity for Fabry disease and should be useful for diagnostic linkage analyses in Alport syndrome, X-linked cleft palate and ankyloglossia, Pelizaeus-Merzbacher disease, and X-linked agammaglobulinemia as well as sequence-tagged sites for gene mapping.

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Year:  1992        PMID： 1349583     DOI： 10.1016/0888-7543(92)90203-5

Source DB:  PubMed          Journal:  Genomics        ISSN： 0888-7543            Impact factor:   5.736


  9 in total

1.  A mutation causing Alport syndrome with tardive hearing loss is common in the western United States.

Authors:  D F Barker; C J Pruchno; X Jiang; C L Atkin; E M Stone; J C Denison; P R Fain; M C Gregory
Journal:  Am J Hum Genet       Date:  1996-06       Impact factor: 11.025

2.  Allele dropout in sequential PCR and FISH analysis of single cells (cell recycling).

Authors:  S Rechitsky; M Freidine; Y Verlinsky; C M Strom
Journal:  J Assist Reprod Genet       Date:  1996-02       Impact factor: 3.412

3.  Template-directed dye-terminator incorporation (TDI) assay: a homogeneous DNA diagnostic method based on fluorescence resonance energy transfer.

Authors:  X Chen; P Y Kwok
Journal:  Nucleic Acids Res       Date:  1997-01-15       Impact factor: 16.971

4.  Physical mapping shows close linkage between the alpha-galactosidase A gene (GLA) and the DXS178 locus.

Authors:  D Vetrie; D Bentley; M Bobrow; A Harris
Journal:  Hum Genet       Date:  1993-08       Impact factor: 4.132

5.  Twenty novel mutations in the alpha-galactosidase A gene causing Fabry disease.

Authors:  A K Topaloglu; G A Ashley; B Tong; J Shabbeer; K H Astrin; C M Eng; R J Desnick
Journal:  Mol Med       Date:  1999-12       Impact factor: 6.354

6.  Proteolipoprotein gene analysis in 82 patients with sporadic Pelizaeus-Merzbacher Disease: duplications, the major cause of the disease, originate more frequently in male germ cells, but point mutations do not. The Clinical European Network on Brain Dysmyelinating Disease.

Authors:  C Mimault; G Giraud; V Courtois; F Cailloux; J Y Boire; B Dastugue; O Boespflug-Tanguy
Journal:  Am J Hum Genet       Date:  1999-08       Impact factor: 11.025

7.  Towards fully automated genotyping: use of an X linked recessive spastic paraplegia family to test alternative analysis methods.

Authors:  H Kobayashi; T C Matise; M W Perlin; H G Marks; E P Hoffman
Journal:  Hum Genet       Date:  1995-05       Impact factor: 4.132

8.  Lack of X inactivation associated with maternal X isodisomy: evidence for a counting mechanism prior to X inactivation during human embryogenesis.

Authors:  B R Migeon; P Jeppesen; B S Torchia; S Fu; M A Dunn; J Axelman; B J Schmeckpeper; J Fantes; R T Zori; D J Driscoll
Journal:  Am J Hum Genet       Date:  1996-01       Impact factor: 11.025

9.  Genetic homogeneity of Pelizaeus-Merzbacher disease: tight linkage to the proteolipoprotein locus in 16 affected families. PMD Clinical Group.

Authors:  O Boespflug-Tanguy; C Mimault; J Melki; A Cavagna; G Giraud; D Pham Dinh; B Dastugue; A Dautigny
Journal:  Am J Hum Genet       Date:  1994-09       Impact factor: 11.025
  9 in total

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