نتایج جستجو برای: y chromosome deletions
تعداد نتایج: 618566 فیلتر نتایج به سال:
The AZFc region on the human Y chromosome consists mainly of very long direct and inverted repeats and is prone to rearrangement. Although deletion of the entire AZFc is found only in subfertile men, duplications and deletions of portions of AZFc as well as inversions are quite common and represent major polymorphisms of the Y chromosome. Several methods are available to detect these rearrangem...
Objective Approximately 15 percent of couples are infertile. The male factor is responsible for approximately 50% of the cases. One of the main genetic factors playing a role in male infertility is Y chromosomal microdeletion within the proximal long arm of the Y chromosome (Yq11), named azoospermia factor (AZF) region. Recent studies have also demonstrated that there is a potential connection ...
Unbalanced and balanced Y;autosome translocations are rare structural rearrangements that constitute a heterogeneous group. According to Nielsen and Rasmussen, the frequency of these translocations in the general population is approximately 1 in 2000 (six cases out of 11 148 newborn infants). All these six cases were in an unbalanced form. In the majority of cases, there is a non-reciprocal tra...
Evolutionary changes during the process of sex chromosome differentiation in Drosophila miranda are associated with massive DNA rearrangements. Comparing the DNA structure of the larval cuticle protein (Lcp) region from the X2 and neo-Y chromosome pair, we observed insertions, deletions and a large duplication at the neo-Y chromosomal locus. The duplication encompasses a complete copy of the ne...
Structural polymorphism is increasingly recognized as a major form of human genome variation, and is particularly prevalent on the Y chromosome. Assay of the Amelogenin Y gene (AMELY) on Yp is widely used in DNA-based sex testing, and sometimes reveals males who have interstitial deletions. In a collection of 45 deletion males from 12 populations, we used a combination of sequence-tagged site m...
Male infertility is often described in terms of role played by Y chromosome and Yq microdeletions. But studies have shown that X chromosome, being enriched for testis specific genes plays a significant role in formation of mature spermatozoa. The couple under study had undergone treatments for infertility including 7 Intrauterine inseminations (IUI) and 6 Invitro Fertilization (IVF) cycles but ...
The molecular diagnosis of Y-chromosomal microdeletions is a common routine genetic test which is part of the diagnostic workup of azoospermic and severe oligozoospermic men. Since 1999, the European Academy of Andrology (EAA) and the European Molecular Genetics Quality Network (EMQN) have been actively involved in supporting the improvement of the quality of the diagnostic assays by publicatio...
Background Approximately 15% of couples are infertile with the male factor explaining approximately 50% of the cases. One of the main genetic factors playing a role in male infertility is Y chromosomal microdeletions within the proximal long arm of the Y chromosome (Yq11), named the azoospermia factor (AZF) region. Recent studies have shown there is a potential connection between deletions of t...
Skeletal atavism in Shetland ponies is a heritable disorder characterized by abnormal growth of the ulna and fibula that extend the carpal and tarsal joints, respectively. This causes abnormal skeletal structure and impaired movements, and affected foals are usually killed. In order to identify the causal mutation we subjected six confirmed Swedish cases and a DNA pool consisting of 21 control ...
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