Description:
SPERMATOGENIC FAILURE, Y-LINKED, 2; SPGFY2
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Chromosome Abnormalities
dbGaP |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Peripheral vein
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Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
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Transformant
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Epstein-Barr Virus
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Sample Source
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DNA from LCL
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Relation to Proband
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proband
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Confirmation
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Molecular characterization before cell line submission to CCR
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ISCN
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arr Yq11.223(22650981-23046504)x0,8p23.1(7278316-7847304)x3
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin confirmed by LINE assay |
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| Remarks |
Clinically affected; severe oligospermia determined by semen analysis; microdeletion of the b1/b3 region on the long arm of Y chromosome; the following Y chromosome loci were analyzed by PCR: SRY+,RPS4Y+,ZFY+,TSPY+,AMELY+,TBL1Y+, PRKY+,DYZ3+,USP9Y+,UTY+,TMSB4Y+,KALP+,VCY+,STSP+,XKRY+,SMCY+,TGIF2LY+,CDY2+,HSFY+,JARIDID+, EIF1AY+, RBMY1+,PRY-,sY1197-, sY1191-,sY1291-,BPY2+,DAZex11+,DAZex3+, CDY1+,DYZ1+ |
| McIntyre KJ, Murphy E, Mertens L, Dubuc AM, Heim RA, Mason-Suares H, A Role for Chromosomal Microarray Testing in the Workup of Male Infertility The Journal of molecular diagnostics : JMD: 2019 |
| PubMed ID: 32615168 |
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| 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 |
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| 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 |
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| Repping S, Skaletsky H, Brown L, van Daalen SK, Korver CM, Pyntikova T, Kuroda-Kawaguchi T, de Vries JW, Oates RD, Silber S, van der Veen F, Page DC, Rozen S, Polymorphism for a 1.6-Mb deletion of the human Y chromosome persists through balance between recurrent mutation and haploid selection. Nat Genet35(3):247-51 2003 |
| PubMed ID: 14528305 |
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