AZFc Deletions in Idiopathic Infertile Males from South India

Swarna, M.; Babu, S. Ramesh; Reddy, P. P.

doi:10.1080/09723757.2003.11885819

Cited by 3 publications

(1 citation statement)

References 2 publications

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“…Dada et al in 2003 reported the frequency of Y microdeletions to be 9.63% among 83 infertile Indian males studied using 6 STS primers. In another study from South India (Swarna et al 2003) reported 4/50 infertile males with AZFc deletions. The largest Indian study of Y chromosome deletions in azoospermic men was by Thangraj et al (2003).…”

Section: Y Chromosome Microdeletionmentioning

confidence: 94%

A Study of Y Chromosome Microdeletions in Infertile Indian Males

Athalye

Madon

Naik

2004

International Journal of Human Genetics

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Male partners of infertile couples are known to frequently have abnormal semen parameters. Some of these cases are due to underlying genetic factors such as Y chromosome microdeletions, an abnormal karyotype or cystic fibrosis mutations. Y chromosome microdeletions generally cannot be detected by karyotyping. At our clinic we undertook a study of male partners of infertile couples to determine the frequency and common loci of Y chromosome microdeletions in India, using the PCR technique. We studied 100 patients mainly having azoospermia (AZ) or oligoasthenoteratozoospermia (OAT). Multiplex PCR analysis for 18 loci on the Y chromosome was carried out using commercially available kit (Promega Version 1.1). Y chromosome microdeletions were observed in 12/100 (12%) patients including 8/27 (29.63%) with azoospermia, 3/56 (5.35%) with oligoasthenoteratozoospermia and 1/ 7 (14.28%) with only asthenoteratozoospermia. All loci of the DAZ gene were deleted along with DYS237 and DYS236 from AZFd in 5/27 (18.52%) azoospermic males studied. The most commonly deleted loci were DYS240 in 11/12 (91.67%) and DYS219 in 7/12 (58.33%) patients with microdeletions. The use of ICSI in such patients can lead to transmission of Y chromosome microdeletions and subsequent infertility from father to son. Hence screening for Y chromosome microdeletions will help in the proper counseling and management of couples with male factor infertility.

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Section: Y Chromosome Microdeletionmentioning

confidence: 94%

A Study of Y Chromosome Microdeletions in Infertile Indian Males

Athalye

Madon

Naik

2004

International Journal of Human Genetics

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Use of Ethnicity-Specific Sequence Tag Site Markers for Y Chromosome Microdeletion Studies

Sachdeva

Saxena

Majumdar

et al. 2011

Genetic Testing and Molecular Biomarkers

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Prevalence of Azoospermia Factor (AZF) Deletions in Idiopathic Infertile Males in North-East India

Mahanta

Gogoi

et al. 2011

IJHG

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Corneal dystrophies are defined as a group of inherited corneal disorders characterized by opacification of the cornea. Initial classification of corneal dystrophies was based on the layer of cornea involved but with the advent of better technology, a larger picture has evolved that includes both phenotypic and genotypic variants. With the evolving knowledge, a revised classification has been proposed by the International Committee for Classification of Corneal Dystrophies (IC3D). This classification has taken into account the clinical, histologic and genetic basis of the disease, integrating them into one. Our understanding of corneal dystrophies has reached new heights with mutations identified in at least 14 genes. Even though there has been a vast addition of information to the database, we still come across new variants which may seem enigmatic phenotypically. With the additional new information refining the molecular basis, there is a need to explore further the underlying molecular pathology so as to enable the possibility of better treatment modalities to the affected patients and their families. In view of the recent advances, we hereby review the dystrophies with an aim to provide updated information on the clinical and molecular aspects of corneal dystrophies which will aid in their differential diagnosis and management.

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AZFc Deletions in Idiopathic Infertile Males from South India

Cited by 3 publications

References 2 publications

A Study of Y Chromosome Microdeletions in Infertile Indian Males

A Study of Y Chromosome Microdeletions in Infertile Indian Males

Use of Ethnicity-Specific Sequence Tag Site Markers for Y Chromosome Microdeletion Studies

Prevalence of Azoospermia Factor (AZF) Deletions in Idiopathic Infertile Males in North-East India

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