Efficacy of MLPA for detection of Y-chromosome microdeletions in infertile Brazilian patients
| Autor: | Paulo C. Serafini, José Maria Soares-Júnior, Pedro A A Monteleone, Alexandre T. Dias, M. S. Coccuzza, Evelin Aline Zanardo, Edmund Chada Baracat, Marília M. Montenegro, Leslie Domenici Kulikowski, Camila Sommerauer Franchim |
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| Jazyk: | angličtina |
| Rok vydání: | 2020 |
| Předmět: |
Adult
Male Adolescent Y chromosome microdeletion Genetic counseling Sex Chromosome Disorders of Sex Development Molecular Diagnostic Method Biology Y chromosome law.invention Young Adult law medicine Genetics Humans Multiplex ligation-dependent probe amplification Spermatogenesis Genetics (clinical) Polymerase chain reaction Infertility Male Sex Chromosome Aberrations Azoospermia Chromosomes Human Y Obstetrics and Gynecology Chromosome General Medicine Oligospermia Middle Aged medicine.disease Human genetics Phenotype Reproductive Medicine Molecular Diagnostic Techniques Chromosome Deletion Multiplex Polymerase Chain Reaction Brazil Developmental Biology |
| Zdroj: | J Assist Reprod Genet |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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