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Cytogenetic and molecular analysis of infertile males from Bangalore, India

Ali, Mahmood and Prabhakara, MG and Babu, M and Bajaj, V and Manjunath, GB and Vasan, SS and Prasannakumar, KM and Kumar, Arun (2005) Cytogenetic and molecular analysis of infertile males from Bangalore, India. In: 15th Annual Meeting of ISSRF and Symposium on Trends in Molecular and Applied Approaches to Reproduction, 4-6 February, 2005, Kolkata,India, p. 79.

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Infertility affects approximately 13-18% couples of child bearing age. Male infertility accounts for approximately half of these cases. Male infertility is known to have a genetic basis in many cases. Several studies have been performed on the cytogenetic and molecular basis of male infertility in patients from the western populations. Recently, four groups from India have independently reported molecular basis of male infertility in infertile cases from Kolkata, Delhi, Hyderabad and Varanasi. However, there is no report on the genetic basis of male infertility in patients from Bangalore. The objective of the present study is to find out the cytogenetic and molecular basis of male infertility. We have ascertained so far a total of 109 cases with male infertility from Bangalore. These cases were either azoospermic or oligospermic. Peripheral blood samples were obtained by venipuncture. GTG-banding was done on metaphases obtained from peripheral blood leucocyte cultures. PCR-based microdeletion analysis of the Y-chromosome was done using a battery of 29 primer sets from AZF regions (viz. sY746, sY740, sY86, sY2320, sY741, sY84, DFFRY, sY742, sY615 and sY743 from AZFa region; sY98, sY100, sY110, sY80, sY113, sY118, sY124, sY127, sY1211, sY134 and sY143 from AZFb region; sY153, sY148, sY156, sY255, sY254 and sY158 from AZFc region; and, SRY from the p-arm and sY160 from the heterochromatic region). GTG banding showed normal male karyotypes in all except three case. Three abnormal karyotyopes are as follows: 47, XYY; 47,XXY; and, 47,XY,+mar. PCR based microdeletion analysis showed deletions in six patients (6/109; 5.5%) in the AZFc region only. Interestingly, patients from other regions of India have shown deletions in all three AZF regions. The presence of microdeletions in the AZFc region only in patients from Bangalore suggests a regional variation in the deletions of AZF regions in Indian male infertile patients. The sizes of the deletions were variable in these patients. Deleted segment in only one patient extended to the heterochromatic region of the Y-chromosome. (The financial assistance from the ICMR, New Delhi is gratefully acknowledged).

Item Type: Conference Poster
Keywords: Infertility;microdeletion;GTG-banding;Y-chromosome
Department/Centre: Division of Biological Sciences > Molecular Reproduction, Development & Genetics
Date Deposited: 02 Mar 2005
Last Modified: 07 Dec 2009 11:14
URI: http://eprints.iisc.ac.in/id/eprint/2814

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