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Title: Detection of aneuploid human sperm by fluorescence in situ hybridization: Evidence for a donor difference in frequency of sperm disomic for chromosomes 1 and Y

Abstract

Fluorescence in situ hybridization with repetitive-sequence DNA probes was used to detect human sperm disomic for chromosomes 1 and Y in three healthy men. Data on these same men had been obtained previously, using the human-sperm/hamster-egg cytogenetic technique, providing a cytogenetic reference for validating sperm hybridization measurements. Air-dried smears were prepared from semen samples and treated with DTT and lithium diiodosalicylate to expand sperm chromatin. Hybridization with fluorescently tagged DNA probes for chromosomes 1 (pUC177) or Y (pY3.4) yielded average frequencies of sperm with two fluorescent domains of 14.2[+-]2.4/10,000 and 5.6[+-]1.6/10,000 sperm, respectively. These frequencies did not differ statistically from frequencies of hyperploidy observed for these chromosomes with the hamster technique. In addition, frequencies of disomic sperm from one donor were elevated [approximately]2.5-fold above those of other donors, for both chromosomes 1 (P = .045) and Y (P = .01), consistent with a trend found with the hamster technique. The authors conclude that fluorescence in situ hybridization to sperm chromosomes provides a valid and promising measure of the frequency of disomic human sperm. 43 refs., 1 fig., 4 tabs.

Authors:
 [1]; ;  [2];  [3]
  1. Univ. of California, Berkeley (United States) Lawrence Livermore National Lab., CA (United States)
  2. Univ. of California, San Francisco (United States)
  3. Lawrence Livermore National Lab., CA (United States)
Publication Date:
OSTI Identifier:
6333388
DOE Contract Number:  
W-7405-ENG-48
Resource Type:
Journal Article
Journal Name:
American Journal of Human Genetics; (United States)
Additional Journal Information:
Journal Volume: 52:4; Journal ID: ISSN 0002-9297
Country of Publication:
United States
Language:
English
Subject:
59 BASIC BIOLOGICAL SCIENCES; ANEUPLOIDY; DETECTION; DNA HYBRIDIZATION; FLUORESCENCE; SPERMATOZOA; CHROMOSOMAL ABERRATIONS; HUMAN CHROMOSOMES; HUMAN Y CHROMOSOME; CHROMOSOMES; GAMETES; GERM CELLS; HETEROCHROMOSOMES; HYBRIDIZATION; LUMINESCENCE; MUTATIONS; PLOIDY; Y CHROMOSOME; 550400* - Genetics

Citation Formats

Robbins, W A, Segraves, R, Pinkel, D, and Wyrobek, A J. Detection of aneuploid human sperm by fluorescence in situ hybridization: Evidence for a donor difference in frequency of sperm disomic for chromosomes 1 and Y. United States: N. p., 1993. Web.
Robbins, W A, Segraves, R, Pinkel, D, & Wyrobek, A J. Detection of aneuploid human sperm by fluorescence in situ hybridization: Evidence for a donor difference in frequency of sperm disomic for chromosomes 1 and Y. United States.
Robbins, W A, Segraves, R, Pinkel, D, and Wyrobek, A J. 1993. "Detection of aneuploid human sperm by fluorescence in situ hybridization: Evidence for a donor difference in frequency of sperm disomic for chromosomes 1 and Y". United States.
@article{osti_6333388,
title = {Detection of aneuploid human sperm by fluorescence in situ hybridization: Evidence for a donor difference in frequency of sperm disomic for chromosomes 1 and Y},
author = {Robbins, W A and Segraves, R and Pinkel, D and Wyrobek, A J},
abstractNote = {Fluorescence in situ hybridization with repetitive-sequence DNA probes was used to detect human sperm disomic for chromosomes 1 and Y in three healthy men. Data on these same men had been obtained previously, using the human-sperm/hamster-egg cytogenetic technique, providing a cytogenetic reference for validating sperm hybridization measurements. Air-dried smears were prepared from semen samples and treated with DTT and lithium diiodosalicylate to expand sperm chromatin. Hybridization with fluorescently tagged DNA probes for chromosomes 1 (pUC177) or Y (pY3.4) yielded average frequencies of sperm with two fluorescent domains of 14.2[+-]2.4/10,000 and 5.6[+-]1.6/10,000 sperm, respectively. These frequencies did not differ statistically from frequencies of hyperploidy observed for these chromosomes with the hamster technique. In addition, frequencies of disomic sperm from one donor were elevated [approximately]2.5-fold above those of other donors, for both chromosomes 1 (P = .045) and Y (P = .01), consistent with a trend found with the hamster technique. The authors conclude that fluorescence in situ hybridization to sperm chromosomes provides a valid and promising measure of the frequency of disomic human sperm. 43 refs., 1 fig., 4 tabs.},
doi = {},
url = {https://www.osti.gov/biblio/6333388}, journal = {American Journal of Human Genetics; (United States)},
issn = {0002-9297},
number = ,
volume = 52:4,
place = {United States},
year = {Thu Apr 01 00:00:00 EST 1993},
month = {Thu Apr 01 00:00:00 EST 1993}
}