Development of a high resolution Y chromosome microarray for improved male infertility diagnosis

Array-comparative genomic hybridization is a robust higher resolution alternative to multiplex polymerase chain reaction for detection of chromosome Y microdeletions, increasing the diagnostic yield in male infertility.

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Authors

Ryan K.C. Yuen, Ph.D., Anna Merkoulovitch, B.CS., Jeffrey R. MacDonald, B.Sc., Matthew Vlasschaert, B.Sc., Kirk Lo, M.D., Ethan Grober, M.D., Christian R. Marshall, Ph.D., Keith A. Jarvi, M.D., Elena Kolomietz, M.D., Ph.D., Stephen W. Scherer, Ph.D.

Volume 101, Issue 4, Pages 1079-1085.e3

Abstract

Objective:

To develop a novel clinical test using microarray technology as a high-resolution alternative to current methods for detection of known and novel microdeletions on the Y chromosome.

Design:

Custom Agilent 8x15K array comparative genomic hybridization (aCGH) with 10,162 probes on an average probe spacing of 2.5 kb across the euchromatic region of the Y chromosome.

Setting:

Clinical diagnostic laboratory.

Patient(s):

Men with infertility (n = 104) and controls with proven fertility (n = 148).

Intervention(s):

Microarray genotyping of DNA.

Main Outcome Measure(s):

Gene copy number variation determined by log ratio of probe signal intensity against a DNA reference.

Result(s):

Our aCGH experiments found all known AZF microdeletions as well as additional unbalanced structural alterations. In addition to complete AZF microdeletions, we found that AZFc partial deletions represent a risk factor for male infertility. In total, aCGH-based detection achieved a diagnostic yield of ∼11% and also revealed additional potentially etiologic copy number variations requiring further characterization.

Conclusion(s):

The aCGH approach is a reliable high-resolution alternative to multiplex polymerase chain reaction for the discovery of pathogenic chromosome Y microdeletions in male infertility.

Read the full text at: http://www.fertstert.org/article/S0015-0282(13)03459-6/fulltext


Fertility and Sterility

Editorial Office, American Society for Reproductive Medicine

Fertility and Sterility® is an international journal for obstetricians, gynecologists, reproductive endocrinologists, urologists, basic scientists and others who treat and investigate problems of infertility and human reproductive disorders. The journal publishes juried original scientific articles in clinical and laboratory research relevant to reproductive endocrinology, urology, andrology, physiology, immunology, genetics, contraception, and menopause. Fertility and Sterility® encourages and supports meaningful basic and clinical research, and facilitates and promotes excellence in professional education, in the field of reproductive medicine.

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