Recently studies about bi-allelic markers such as SNP, which is commonly found in about every 1.2 kb, seem to be increasing. Compared to STR marker, much have to be improved if it is to be used for individual identification. Nevertheless many researchers have interests in SNP and it 's scope is unpre-dictable. SNP may be promising as an auxiliary tool in individual identification, especially in Y chromo-somal study, in which the usefulness of conventional STR markers are restricted as the concept of haplo-type is applied. We report allelic distribution pattern in Korean for several previously known bi-allelic markers, that are SY81, M9, SRY1532, SRY2627, YAP. In three loci that are SY81, SRY1532, SRY2627, no polymorphism was noted. In M9, YAP loci, bi-allel-ic polymorphism was noted. In M9, 79.3% was G-type, and C-type was 20.7%. The YAP insertion was positive only in 6%. Remaining 94% was YAP(-). These pattern was compared with that of other popu-lation, and racial difference was evident. Several key points about SNP were discussed.
Y Chromosome*

OBJECTIVETo evaluate the association of gr/gr deletion in the AZFc region of Y chromosome with idiopathic male infertility using Meta-analysis.

METHODSAll relevant case-control studies addressing the relationship between gr/gr deletion and idiopathic male infertility were identified from PubMed, VIP and CNKI (from January 2003 to August 2010). Statistical analyses were performed with the RevMan4. 2 software.

RESULTSTwenty eligible articles were selected in this study, including 5 246 cases of idiopathic infertility and 4 380 controls. The integrated data from the 20 studies revealed a significantly higher frequency of gr/gr deletion in the patients than in the controls, with an odds ratio (OR) of 1.63 (95% CI: 1.23 -2.44) (P = 0.002). However, when the Meta-analysis was limited to 16 studies with stricter case and control selection criteria, the overall OR increased to 1.84 (95% CI: 1.47 - 2.29) (P < 0.000 01). Thirteen studies showed that oligozoospermia patients had a significantly higher frequency of gr/gr deletion than controls (OR = 2.12, 95% CI: 1.61 - 2.80) (P < 0.000 01). Eight studies showed a significant association between the gr/gr deletion subtype without DAZ1/DAZ2 gene copies and spermatogenic impairment (OR = 1.83, 95% CI: 1.31 - 2.55) (P = 0.000 4), but no statistically significant differences were found in the frequency distribution of the gr/gr deletion subtype missing DAZ3/DAZ4 gene copies between the patients and controls (OR = 1.43, 95% CI: 0.97 -2.11) (P = 0.07).

CONCLUSIONThe present data suggest that gr/gr deletion may be one of the risk factors of male infertility.

Chromosome Deletion ; Chromosomes, Human, Y ; Humans ; Infertility, Male ; genetics ; Male

About 10%-15% of azoospermic and 5%-10% of severely oligozoospermic men with idiopathic infertility have Yq microdeletions which could be transmitted to their male offspring by means of ICSI. We review present studies about Yq microdeletions including incidence, region, correlations between genotype and phenotype, the mechanism of Yq deletions and try to further understand the cause of male infertility as well as provide a new way for diagnosis and therapy.
Chromosome Deletion ; Chromosome Mapping ; Chromosomes, Human, Y ; genetics ; Genotype ; Humans ; Infertility, Male ; genetics ; pathology ; Male ; Phenotype ; Sex Chromosome Aberrations

BACKGROUND: It has been proposed that the long arm of the human Y chromosome contains AZF (the azoospermia factor), the gene or genes that control spermatogenesis. In this study, I detected microdeletions on the long arm of the Y chromosome and analysed the relationship between the microdeletion detected and the failure of spermatogenesis in the patients investigated. METHODS: In this study, I analyzed 35 infertile patients, including 21 azoospermia and 14 oligospermia. Genomic DNAs were isolated from peripheral blood samples. Each sample was examined for the presence or absence of the total 9 Y-DNA landmarks on the Y chromosome including those deleted in the azoospermia and Y-chromosome RNA recognition motif (RBM1), using the polymerase chain reaction amplification. RESULTS: I detected microdeletions on the long arm of the Y chromosome in 4 patients with azoospermia. All 4 samples with microdeletions of the Y chromosome were identified with microdeletions of multiple loci. The microleletion incidence was 2.9% for sY143 and 11.4% for other loci (sY152, sY153 and sY255). But, the microdeletion of RBM1 was not identified. CONCLUSIONS: Even though the microdeletion analysis of the Y chromosome was not fully performed, this report suggests the presence of microdeletions within the Y chromosome in patients with azoospermia, supporting the relationship between the chromosomal region involved and the process of sper-matogenesis.
Arm ; Azoospermia* ; Chromosomes, Human, Y ; DNA ; Humans ; Incidence ; Male ; Oligospermia* ; Polymerase Chain Reaction ; RNA ; Spermatogenesis ; Y Chromosome*

The paternal inheritance characteristics of Y chromosome have been widely used in the forensic genetics field to detect the genetic markers in the non-recombining block, and used in the studies such as, genetic relationship identification, mixed stain detection, pedigree screen and ethnicity determination. At present, capillary electrophoresis is still the most common detection technology. The commercial detection kits and data analysis and processing system based on this technology are very mature. However, the disadvantages of traditional detection technology have gradually appeared with the rapid growth of bio-information amount, which promotes the renewal of forensic DNA typing technology. In recent years, next generation sequencing （NGS） technology has developed rapidly. This technology has been applied to various fields including forensic genetics and has provided new techniques for the detection of Y chromosome genetic markers. This article describes the current situation and application prospects of the NGS technology in forensic Y chromosome genetic markers detection in order to provide new ideas for future judicial practice.
Chromosomes, Human, Y/genetics* ; DNA Fingerprinting ; Forensic Genetics ; Genetic Markers ; High-Throughput Nucleotide Sequencing ; Humans ; Microsatellite Repeats ; Technology ; Y Chromosome

OBJECTIVETo investigate the characteristics of null allele for 17 Y-chromosomal short tandem repeats (Y-STR) loci in a group of infertile males.

METHODSTwo hundred thirty six infertile males featuring non-obstructive azoospermia and severe oligozoospermia were analyzed with an AmpFISTR ((R)) Yfiler (TM) kit. Deletions of azoospermia factor (AZF) fragments were confirmed with Y chromosome sequence-tagged sites (STSs) analysis using modified multiplex PCR.

RESULTSThe overall prevalence of AZF microdeletions was 16.95% (40/236). In the non-obstructive azoospermia group, 13 cases had AZFc deletion, 6 cases had AZFb+c deletion, 2 cases had AZFa deletion, 1 case had AZFb deletion. In the severe oligozoospermia group, 17 cases had AZFc deletion and 1 had AZFb deletion. No AZFa+b+c deletion was detected. Forty cases showed null alleles by scanning of the 17 STR loci. Deletions of DYS438, DYS439, DYS437, DYS389I and DYS389II were found in the 2 cases with AZFa deletion. In patients with AZFb deletion, DYS392 and DYS385a/b were found deleted. Deletions of DYS448 were detected in all of the 30 cases with AZFc deletion. Deletions of DYS392, DYS385a/b, and DYS448 were found in 6 cases with AZFb+c deletion.

CONCLUSIONDeletions of the Y chromosome AZF regions are associated with azoospermia and severe oligozoospermia. Null allele due to complete absence of AZFa, AZFb and AZFc regions may lead to misinterpretation in the sexual assault cases. Revealing the locus heterogeneity in male infertility population can enrich the Y-STR database and facilitate interpretation STR data in forensic DNA testing.

Alleles ; Chromosome Deletion ; Chromosomes, Human, Y ; Humans ; Infertility, Male ; genetics ; Male ; Microsatellite Repeats

Microdeletion of the azoospermia factor in the Yq of the Y chromosome is one of the important causes of male infertility. Complete deletion of the AZFc region (b2/b4 deletion) is the most common type of AZF deletion. Recent studies have shown a variety of deletions of the AZFc region, including partial deletions, such as gr/gr deletion, b1/b3 deletion and b2/b3 deletion, which may also be associated with male infertility.
Chromosome Deletion ; Chromosomes, Human, Y ; Genetic Loci ; Humans ; Infertility, Male ; genetics ; Male ; Seminal Plasma Proteins ; genetics

OBJECTIVETo investigate the location and characteristics of microdeletions of Y chromosome azoospermia factor (AZF) genes in infertile males with azoospermia and severe oligozoospermia in southern Sichuan.

METHODSMultiplex PCR was used to detect 18 sequence tagged sites (STS) involved in Y chromosome AZF microdeletions among 224 infertile males (including 134 azoospermia cases and 90 severe oligozoospermia cases) and 70 healthy males.

RESULTSAmong the 224 infertile males, the overall frequency of microdeletions was 12.1% (27/224), and were 13.4% (18/134) in those with azoospermia and 10.0% (9/90) in those with severe oligozoospermia. The most frequent microdeletions have occurred in the AZFc region (51.9%). Compared with the 6 STS loci recommended by European Academy of Andrology and European Molecular Genetics Quality Network, 22.7% more deletions were detected based on the 18 STS loci selected from the AZF region.

CONCLUSIONIdentification of Y chromosome microdeletions has a significant implication on the diagnosis of male infertility. The most frequent microdeletions have occurred in the AZFc region in southern Sichuan. To use more sequence tagged sites for the screening can improve the reliability and detection rate of Y chromosome microdeletions.

Adult ; Azoospermia ; genetics ; Chromosome Deletion ; Chromosomes, Human, Y ; Female ; Humans ; Infertility, Male ; genetics ; Male ; Middle Aged

The spermatogenesis failure with a genetic defect is one of the major causes of male infertility. The Y chromosome is considered a lack of important functional genes. It was the discovery of the sex determining region Y that rekindled scientists'attention to the Y chromosome. The successful sequencing of the Y chromosome uncovered its actual structure and the molecular base of its microdeletion. Of the 220 Y chromosome genes (104 coding genes, 111 pseudogenes, and 5 other uncategorized genes), 16 coding genes have been found in the azoospermia factor region (AZF) and related with male fertility. To date, more than 12 Y chromosome microdeletions have been discovered in the AZF region. The amplicons regions in the Y chromosome are the genetic base of microdeletion occurrence. The Y chromosome microdeletions in the AZF region have been identified as a relatively common cause of male infertility and diagnosed by multiplex PCR in the clinical laboratory. Genomics has brought many revolutionized tools beneficial for better understanding the genetics of mal infertility and defining the role of the Y chromosome gene in spermatogenesis.
Chromosome Deletion ; Chromosomes, Human, Y ; genetics ; Humans ; Infertility, Male ; genetics ; Male

OBJECTIVETo locate the deletion region of an azoospermic patient with a large deletion on his Y chromosome long arm.

METHODSMultiplex polymerase chain reaction was used to amplify fifteen sequence tagged sites (STS), namely sY84, sY86, sY87 in AZFa, sY102, sY117, sY118, sY119, sY115, DYS132, DYS383, sY1015, sY121, sY125, sY127, sY129 and sY134 in AZFb, sY152 in AZFd, sY1258, sY1291, sY254, sY255, sY158 and sY1201 in AZFc, and sY160 in Yq12.

RESULTSOnly sY84, sY86, sY87, sY102, sY117, sY118, sY119, sY115 and DYS132 could be amplified while the others were negative. The breakpoints were found to locate in an area between AZFb sY115 and DYS383 spanning 8577.

CONCLUSIONThis study provided the exact breakpoints on Y chromosome AZF region in the patient.

Adult ; Azoospermia ; genetics ; Chromosome Deletion ; Chromosomes, Human, Y ; genetics ; Humans ; Male