Efficacy of MLPA for detection of Y-chromosome microdeletions in infertile Brazilian patients
- 12 May 2020
- journal article
- research article
- Published by Springer Science and Business Media LLC in Journal of Assisted Reproduction and Genetics
- Vol. 37 (5), 1251-1259
- https://doi.org/10.1007/s10815-020-01777-8
Abstract
Purpose Worldwide publications follow the gold standard method—the polymerase chain reaction (PCR)—for detecting Y-chromosome microdeletions; however, markers are frequently variable between the studies. Can we detect the deletions by another molecular method with more genomic coverage? The Y chromosome harbors several different genes responsible for testicular development and spermatogenesis, and its repetitive conformation predisposes it to complex rearrangements that have clinical impact. Our aim was to evaluate a molecular diagnostic method, the Multiplex Ligand Probe-dependent Amplification (MLPA), which is also a valuable ancillary method for the identification of deletions, duplications, and rearrangements in a single and faster reaction, leading to a better comprehension of patients’ phenotypes, and should be considered a useful tool for detection of Y chromosome deletions. Methods This is a study of diagnostic accuracy (transversal prospective study) conducted to investigate Y-chromosome deletions in 84 individuals through PCR and MLPA methods. Forty-three infertile men (azoospermic and oligozoospermic) and 41 controls (40 fertile men and 1 normal karyotyped woman) were analyzed by PCR and MLPA techniques. Results We diagnosed seven (7) deletions (16.2%) by PCR and 9 with MLPA (21%). In addition, we found five (5) duplications and a suggestive mosaic. Conclusion Our results demonstrate that MLPA technique is valuable in the investigation of microdeletions and microduplications. Besides deletions, duplications can cause instability of chromosome genes, possibly leading to infertility. Both studied techniques provide an advantageous diagnostic strategy, thus enabling a better genetic counseling.Keywords
This publication has 32 references indexed in Scilit:
- AZFc Deletions and Spermatogenic Failure: A Population-Based Survey of 20,000 Y ChromosomesAmerican Journal of Human Genetics, 2012
- The likelihood of finding mature sperm cells in men with AZFb or AZFb-c deletions: six new cases and a review of the literature (1994–2010)Fertility and Sterility, 2011
- Gene copy number reduction in the azoospermia factor c (AZFc) region and its effect on total motile sperm countHuman Molecular Genetics, 2011
- Partial AZFc deletions and duplications: clinical correlates in the Italian populationHuman Genetics, 2008
- Partial duplication atAZFcon the Y chromosome is a risk factor for impaired spermatogenesis in Han Chinese in TaiwanHuman Mutation, 2007
- Identification of high frequency of Y chromosome deletions in patients with sex chromosome mosaicism and correlation with the clinical phenotype and Y‐chromosome instabilityAmerican Journal of Medical Genetics Part A, 2005
- Genomic heterogeneity and instability of the AZF locus on the human Y chromosomeMolecular and Cellular Endocrinology, 2004
- AZF microdeletions of the Y chromosome and in vitro fertilization outcomeFertility and Sterility, 2004
- Abundant gene conversion between arms of palindromes in human and ape Y chromosomesNature, 2003
- Y chromosome analysis of infertile men and their sons conceived through intracytoplasmic sperm injection: vertical transmission of deletions and rarity of de novo deletionsFertility and Sterility, 2000