Prevalent false positives of azoospermia factor a (AZFa) microdeletions caused by single-nucleotide polymorphism rs72609647 in the sY84 screening of male infertility.
نویسندگان
چکیده
Multiplex polymerase chain reaction (PCR) has been widely used to detect Y-chromosome microdeletions, which is one of the major causes of male infertility. Both the European Academy of Andrology (EAA) and the European Molecular Genetics Quality Network (EMQN) have recommended the use of sY84 and sY86 markers for the detection of azoospermia factor a (AZFa) microdeletion during DNA testing for male infertility. In this study, a large-scale analysis of AZF microdeletion in a total of 630 Chinese males, including healthy semen donors (n=200), infertile males with normal sperm count (n=226) and patients with either nonobstructive azoospermia or severe oligozoospermia (n=204), was performed. A series of nine sequence-tagged site (STS) markers from the AZF region of the Y chromosome was used to detect microdeletions. All primers were designed based on the recommendations of the National Center for Biotechnology Information. An unusually high incidence (73/630, 11.6%) of sY84-absent but sY86-present genotypes was observed in the AZFa microdeletion screening. Sequencing the sY84-flanking region revealed a total of 73 patients with sY84-absent but sY86-present genotypes have a T-to-G transversion at the fifth base from the 5' end of the reverse sY84 primer. These prevalent false positives, which were not only observed in infertile men, but also observed in donors, resulted from a single-nucleotide polymorphism (SNP) named rs72609647 in the targeting sequence of the reverse sY84 primer. Our study suggests that a pre-screening of existence of rs72609647 polymorphism can prevent the frequent false positive results of AZFa microdeletions detection in the infertile Chinese males. Given the SNP rs72609647 was recently found in a deep sequencing of a Chinese individual, the current EAA and EMQN standards may need to be scrutinized among different populations to avoid the potential genetic variations in the primer binding sequences.
منابع مشابه
بررسی حذف های کوچک کروموزوم Y در مردان نابارور مراجعه کننده به بیمارستان فاطمیه همدان با روش Multiplex PCR
Introduction & Objective: Male factor is the major cause of infertility in 20% of cases (WHO). There are known etiologies for 70% of cases .However, 30% of infertility cases are of idiopathic origin. The Y chromosome and micro deletion of the long arm of the Y chromosome (Yq) in three regions (AZFa, AZFb ,AZFc ) are associated with spermatogenic failure and is a major etiology for oligo and a...
متن کاملY chromosome microdeletions in Brazilian fertility clinic patients.
Microdeletions in Yq are associated with defects in spermatogenesis, while those in the AZF region are considered critical for germ cell development. We examined microdeletions in the Y chromosomes of patients attended at the Laboratory of Human Reproduction of the Clinical Hospital of the Federal University of Goiás as part of a screening of patients who plan to undergo assisted reproduction. ...
متن کاملTracking microdeletions of the AZF region in a patrilineal line of infertile men.
Male infertility is considered to be a difficult-to-treat condition because it is not a single entity, but rather reflects a variety of different pathologic conditions, thus making it difficult to use a single treatment strategy. Structural alterations in the Y chromosome have been the principal factor responsible for male infertility. We examined 26 family members of 13 patients with male infe...
متن کاملO-1: Evaluation of Ethnic Patterns of Y Chromosome Microdeletions in Iranian Infertile Men with Azoospermia/Severe Oligospermia Referred to Royan Institute
Background: Microdeletions of the long arm of the chromosome Y are the most common molecular genetic cause of severe infertility in men which affect three regions of AZFa, AZFb and AZFc (Azoospermia factor). These regions contain various genes involved in spermatogenesis. The effect of ethnicity on the patterns of Y chromosome microdeletions has not been extensively studied, particulary in Iran...
متن کاملGenetic Risk of Azoospermia Factor (AZF) Microdeletions in Idiopathic Cases of Azoospermia and Oligozoospermia in Central Indian Population.
BACKGROUND Genetic factors cause about 15% of male infertility. Azoospermia factors (AZFa, AZFb, and AZFc) present on Yq are most important for spermatogenesis. We have made an attempt to evaluate the frequencies of microdeletions of AZFa, AZFb, AZFc in idiopathic cases of azoospermia and oligozoospermia from central Indian population. MATERIALS AND METHODS We have analyzed a total of 156 sub...
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ورودعنوان ژورنال:
- Asian journal of andrology
دوره 13 6 شماره
صفحات -
تاریخ انتشار 2011