Y chromosome microdeletion and cytogenetic findings in male infertility: A cross-sectional descriptive study
Publish Year: 1399
نوع سند: مقاله ژورنالی
زبان: English
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شناسه ملی سند علمی:
JR_IJRM-19-2_005
تاریخ نمایه سازی: 17 فروردین 1400
Abstract:
Background: Infertility affects about 15% of couples worldwide, and the male factor alone is responsible for approximately 50% of the cases. Genetic factors have been found to play important roles in the etiology of azoospermia and severe oligospermia conditions that affect 30% of individuals seeking treatment at infertility clinics.
Objective: To determine the frequency of chromosomal abnormalities and Y chromosome microdeletion in infertile men.
Materials and Methods: A total of 100 infertile men with abnormal semen parameters were included in this study from 2014 to 2018. Chromosomal analysis was carried out using standard G-banding using Trypsin Giemsa protocol. Multiplex polymerase chain reaction was used to determine the Y microdeletion frequency.
Results: All participants were aged between 22 and 48 yr with a mean and standard deviation of 35.5 ± 5.1. Of the 100 subjects included in the study, three had Klinefelter syndrome-47,XXY, one had balanced carrier translocation-46,XY,t(2;7)(q21;p12), one with the balanced carrier translocation with inversion of Y chromosome 45,XY,der(13;14)(q10;q10),inv(Y), one had polymorphic variant of chromosome 15, one had Yqh-, and another had an inversion of chromosome 9. Y chromosome microdeletion of Azoospermia factor c region was observed in 2% of the cases. To the best of our knowledge, the current study is the first reported case with unique, balanced carrier translocation of chromosome 2q21 and 7p21.
Conclusion: The present study emphasizes the importance of routine cytogenetic screening and Y microdeletion assessment for infertile men, which can provide specific and better treatment options before undergoing assisted reproductive technology during genetic counseling.
Keywords:
Chromosome aberrations , Infertility , Chromosome deletion , Polymerase chain reaction , Sequence tagged sites , انحراف کروموزوم , ناباروری , حذف کروموزوم , واکنش زنجیره ای اولیمراز , سایت های دارای برچسب دنباله
Authors
Meenakshi Arumugam
KSHEMA Centre for Genetic Services, Kowdur Sadananda Hegde Medical Academy, Nitte University, Mangalore, Karnataka, India.
Deyyanthody Prashanth Shetty
KSHEMA Centre for Genetic Services, Kowdur Sadananda Hegde Medical Academy, Nitte University, Mangalore, Karnataka, India.
Jayarama Shanker Kadandale
KSHEMA Centre for Genetic Services, Kowdur Sadananda Hegde Medical Academy, Nitte University, Mangalore, Karnataka, India.
Suchetha Nalilu Kumari
Department of Biochemistry, Kowdur Sadananda Hegde Medical Academy, Nitte University, Mangalore, Karnataka, India.
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