Men with oligoasthenoteratozoospermia harbour higher numbers of multiple mitochondrial DNA deletions in their spermatozoa, but individual deletions are not indicative of overall aetiology.

A Novel Large-Scale Deletion of The Mitochondrial DNA of Spermatozoa of Men in North Iran

SUBMICROSCOPIC DELETIONS OF THE Y CHROMOSOME ARE NOT LIMITED TO AZOOSPERMIC MEN, BUT ARE ALSO DETECTED IN INFERTILE MEN WITH IDIOPATHIC OLIGOZOOSPERMIA

It is now agreed that 10-25% of infertile men with azoospermia have submicroscopic deletions of the Y chromosome long ann (yq), consistent with the proposed location of the azoospermia locus (AZF) in Yq 11.23. However, it is not known whether Yq microdeletions are unique to men with azoospermia or whether they are also observed in infertile men with less severe defects of spermatogenesis (o...

O-7: Y Chromosome Microdeletions Are Not Associated with Spontaneous Recurrent Pregnancy Loss in A Sinhalese Population in Sri Lanka

Background: Many advances have been made in reproductive medicine yet the spontaneous loss of a pregnancy remains the most common complication of pregnancy. The aetiology of spontaneous recurrent pregnancy loss (RPL) is multifactorial. Y chromosome microdeletions are found in approximately 7% of men with low sperm counts and, compared to the general population, a higher frequency of spontaneous...

Role of Mitochondria in Ataxia-Telangiectasia: Investigation of Mitochondrial Deletions and Haplogroups

Ataxia-Telangiectasia (AT) is a rare human neurodegenerative autosomal recessive multisystem disease that is characterized by a wide range of features including, progressive cerebellar ataxia with onset during infancy, occulocutaneous telangiectasia, susceptibility to neoplasia, occulomotor disturbances, chromosomal instability and growth and developmental abnormalities. Mitochondrial DNA (mtDN...

شناسایی یک حذف بزرگ در DNA میتوکندریایی بیماران ایرانی مبتلا به آریتمی قلبی

Introduction: Long QT Syndrome is one of the arrhythmic disorders of the heart that causes sudden cardiac death in patients. Most of the investigations have focused on nuclear genome for finding genetic defects in these disorders, but some of the cases with LQTS cannot be explained by mutations of identified genes. It prompted the authors to focus on the mitochondrial DNA and monitor rearrangem...