Description:
46,XY SEX REVERSAL 1; SRXY1
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases |
| Class |
Gonadal Dysgenesis |
|
Cell Type
|
Fibroblast
|
|
Transformant
|
Untransformed
|
|
Race
|
White
|
|
Family Member
|
1
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Clinical summary/Case history
|
|
ISCN
|
46,XY
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| 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. |
| |
| Remarks |
46,XY; H-Y antigen positive; G6PD type B; Xg(a) antigen positive; positive for TDF gene sequences (ZFY); mother is GM01948 |
| 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 |
| Passage Frozen |
2 |
| Split Ratio |
1:3 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Medium |
Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not inactivated |
| Substrate |
None specified |
| Subcultivation Method |
trypsin-EDTA |
| Supplement |
- |
|
|