Familial adenomatous polyposis (FAP) is a hereditary syndrome characterized by the presence of multiple polyps in colon. The main cause disease germline mutation APC gene. Here we report 4 unrelated FAP patients with different large deletions gene detected Multiplex Ligation-dependent Probe Amplification (MLPA) method: deletion exons 7-15, promoters B, A, and 5'-UTR region promoter B (in 2 pati...

PURPOSE To identify mutations in the paired box 6 (PAX6) gene of 33 probands with aniridia and to reveal the mutational spectrum in the Chinese population. METHODS Unrelated probands with aniridia from 27 newly selected families and six previously analyzed families participated in this study. The coding regions of PAX6 in the 27 new families were analyzed using cycle sequencing. Families that...

BACKGROUND Müllerian aplasia (MA) characterized by congenital loss of functional uterus and vagina is one of the most difficult disorders of female reproductive health. Despite of growing interest in this research field, the cause of the disorder for the majority of patients is still unknown. A recent report of partial SHOX duplications in five patients with MA has motivated us to further evalu...

BACKGROUND Inducible conditional knockout animals are widely used to get insight in the function of genes and the pathogenesis of human diseases. These models frequently rely on Cre-mediated recombination of sequences flanked by Lox-P sites. To understand the consequences of gene disruption, it is essential to know the efficiency of the recombination process. RESULTS Here, we describe a modif...

Other novel techniques are also available that can provide fast and reliable diagnosis of KS, for example, array based multiplex ligation-dependent probe amplification (MLPA)4 for the rapid screening of chromosomal aneuploidies or the equally elegant assessment of the copy number of the androgen receptor by quantitative polymerase chain reaction (qPCR).5 These techniques should also be consider...

background: in recent studies, partial deletions of the azoospermia factor c region (azfc) on the y-chromosome have been detected in males with infertility problems. however, there has been a lot of debate about their significance. in order to study such deletions, a simple but accurate method for their detection was applied in this study. methods: we present data obtained from the multiplex li...