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NA18336 DNA from LCL

Description:

SPERMATOGENIC FAILURE, Y-LINKED, 2; SPGFY2

Affected:

Yes

Sex:

Male

Age:

38 YR (At Sampling)

  • Overview
  • Characterizations
  • Phenotypic Data
  • Publications
  • External Links

Overview

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Repository NIGMS Human Genetic Cell Repository
Subcollection Chromosome Abnormalities
dbGaP
Quantity 25 µg
Quantitation Method Please see our FAQ
Biopsy Source Peripheral vein
Cell Type B-Lymphocyte
Tissue Type Blood
Transformant Epstein-Barr Virus
Sample Source DNA from LCL
Relation to Proband proband
Confirmation Clinical summary/Case history
Species Homo sapiens
Common Name Human
Remarks Clinically affected; severely oligoasthenoteratozoospermic; repeated semen analyses yielded sperm counts 0f 50,000-100,000/ml with 20-30% of sperm motile and only 10% with normal morphology; apart from infertility, donor appeared in good health; the following Y chromosome loci were analyzed by PCR: SRY+,RPS4Y+,ZFY+,RBMY+,PRKY+,AMELY+,PRY+,TSPY+,USP9Y+,VCY+,UTY+,TMSB4Y+,VCY+,CDY2+,XKRY+,SMCY+,EIF1AY+,RBMY1+,PRY+,DYS230+,BPY2-,DAZ-,CDY1-, and DYZ1+

Characterizations

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IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by Nucleoside Phosphorylase,Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis
 

Phenotypic Data

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Remarks Clinically affected; severely oligoasthenoteratozoospermic; repeated semen analyses yielded sperm counts 0f 50,000-100,000/ml with 20-30% of sperm motile and only 10% with normal morphology; apart from infertility, donor appeared in good health; the following Y chromosome loci were analyzed by PCR: SRY+,RPS4Y+,ZFY+,RBMY+,PRKY+,AMELY+,PRY+,TSPY+,USP9Y+,VCY+,UTY+,TMSB4Y+,VCY+,CDY2+,XKRY+,SMCY+,EIF1AY+,RBMY1+,PRY+,DYS230+,BPY2-,DAZ-,CDY1-, and DYZ1+

Publications

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Pettersson L, Westerling S, Talla V, Sendel A, Wennberg L, Olsson R, Hedrum A, Hauzenberger D, Development and performance of a next generation sequencing (NGS) assay for monitoring of dd-cfDNA post solid organ transplantation Clinica chimica acta; international journal of clinical chemistry552:117647 2023
PubMed ID: 37951377
 
Tang Z, Berlin DS, Toji L, Toruner GA, Beiswanger C, Kulkarni S, Martin CL, Emanuel BS, Christman M, Gerry NP, A dynamic database of microarray-characterized cell lines with various cytogenetic and genomic backgrounds G3 (Bethesda, Md)3:1143-9 2013
PubMed ID: 23665875
 
Park MY, Kang HM, Hwang SH, Park HJ, Park NC, Choi KU, Kim HH, Chang CL, and Lee EY. , Evaluation of a multiplex PCR kit used for detecting Y chromosome microdeletions]. Korean J Lab Med30(4):432-9 2010
PubMed ID: 20805717
 
Kuroda-Kawaguchi T, Skaletsky H, Brown LG, Minx PJ, Cordum HS, Waterston RH, Wilson RK, Silber S, Oates R, Rozen S, Page DC, The AZFc region of the Y chromosome features massive palindromes and uniform recurrent deletions in infertile men. Nat Genet29(3):279-86 2001
PubMed ID: 11687796
 
Reijo R, Alagappan RK, Patrizio P, Page DC, Severe oligozoospermia resulting from deletions of azoospermia factor gene on Y chromosome. Lancet347(9011):1290-3 1996
PubMed ID: 8622504

External Links

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dbSNP dbSNP ID: 18579
NCBI Gene Gene ID:560
NCBI GTR 415000 SPERMATOGENIC FAILURE, Y-LINKED, 2; SPGFY2
OMIM 415000 SPERMATOGENIC FAILURE, Y-LINKED, 2; SPGFY2
Omim Description AZOOSPERMIA FACTOR 1; AZF1
  AZOOSPERMIA FACTOR; AZFSERTOLI-CELL-ONLY SYNDROME, INCLUDED
Pricing
International/Commercial/For-profit:
$281.00USD
U.S. Academic/Non-profit/Government:
$139.00USD
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  • GM18336 - B-Lymphocyte
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