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NA01628 DNA from Fibroblast

Description:

46,XY SEX REVERSAL 1; SRXY1

Affected:

Yes

Sex:

Female

Age:

1 YR (At Sampling)

  • Overview
  • Characterizations
  • Phenotypic Data
  • Publications
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Overview

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Repository NIGMS Human Genetic Cell Repository
Subcollection Heritable Diseases
Class Gonadal Dysgenesis
Quantity 50 µg
Quantitation Method Please see our FAQ
Cell Type Fibroblast
Transformant Untransformed
Sample Source DNA from Fibroblast
Race White
Family Member 1
Relation to Proband proband
Confirmation Clinical summary/Case history
ISCN 46,XY
Species Homo sapiens
Common Name Human
Remarks 46,XY; H-Y antigen positive; G6PD type B; Xg(a) antigen positive; positive for TDF gene sequences (ZFY); mother is GM01948

Characterizations

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Passage Frozen 2
 
IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by Chromosome Analysis
 
GENE MAPPING & DOSAGE STUDIES - Y CHROMOSOME Nishioka and Lamothe (Am J Med Genet 27:711-717,1987) reported that DNA from this 46,XY female cell line hybridized a 3.4 kb Y chromosome repetitive sequence DNA probe (LA26).
 
TESTIS DETERMINING LOCUS Verga and Erickson (Am J Hum Genet 44:756-765,1989) used pulsed-field gel electrophoresis (PFGE) to study the short arm of the Y chromosome by using a pseudoautosomal probe (MIC2Y) and adjacent Y-specific sequences 27a and 47z (DSXY5) in XX males and XY females. In addition, the authors utilized the probe pDP1007 which was cloned from the putative sex-determining locus on the Y chromosome (ZFY). This culture, from an XY female, had all the expected Y-specific sequences, especially the putative TDF clone and showed no altered PFGE fragments.
 

Phenotypic Data

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Remarks 46,XY; H-Y antigen positive; G6PD type B; Xg(a) antigen positive; positive for TDF gene sequences (ZFY); mother is GM01948

Publications

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Verga V, Erickson RP, An extended long-range restriction map of the human sex-determining region on Yp, including ZFY, finds marked homology on Xp and no detectable Y sequences in an XX male. Am J Hum Genet44:756-65 1989
PubMed ID: 2705458
 
Nishioka Y, Lamothe E, Isolation of human Y chromosomal major repetitive sequences from a flow- sorted Y chromosomal library. Am J Med Genet27:711-7 1987
PubMed ID: 3631141

External Links

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dbSNP dbSNP ID: 20349
NCBI GTR 400044 46,XY SEX REVERSAL 1; SRXY1
OMIM 400044 46,XY SEX REVERSAL 1; SRXY1

Images

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View pedigree 
Pricing
International/Commercial/For-profit:
$281.00USD
U.S. Academic/Non-profit/Government:
$139.00USD
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