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*

Mitochondrial DNA (mt DNA) and the non-recombining region of the Y chromosome are passed down, unaltered, from generation to generation, matrilineally and patrilineally, respectively. Therefore, the Y-chromosome DNA and mtDNA are known as lineage markers, and they play important roles in studies based on human migration and evolutionary history. Y-chromosome DNA is used in forensic analysis to identify individuals involved in cases of sexual assault. In this paper, we review the methods of statistical evaluation of lineage markers used in forensic identification. We also review the combined approach of autosomal and lineage marker evidence.
DNA ; DNA, Mitochondrial ; Human Migration ; Y Chromosome

In this study the population data at seven STR loci on the Y chromosome, DYS19, DYS388, DYS389, DYS390, DYS391, DYS392 and DYS393 are described for 1054 Koreans. In each locus, 6-22 alleles were noted, and allelic distribution patterns were found to be different from those of other populations. The PD was 0.28-0.886 and no interallele was noted. In 388 father-son pairs, 9 cases of mutation, one in DYS19 locus, one in DYS388, two in DYS389, three in DYS391, one in DYS392 and one in DYS393 locus were noted. In total 563 different haplotypes were noted. 630 cases shared the same haplotype with someone among 1054 object studied. Even in case which showed different haplotypes, many cases showed differences only in one locus and genotypes in the remaining seven loci were the same. The discrimination between mutation and different haplotypes seems to be problematic in these situations. Experiences for the large scale haplotype data base in Koreans were described.
Alleles ; Discrimination (Psychology) ; Genotype ; Haplotypes* ; Y Chromosome*

In this study the population data at seven STR loci on the Y chromosome, DYS19, DYS388, DYS389, DYS390, DYS391, DYS392 and DYS393 are described for 1054 Koreans. In each locus, 6-22 alleles were noted, and allelic distribution patterns were found to be different from those of other populations. The PD was 0.28-0.886 and no interallele was noted. In 388 father-son pairs, 9 cases of mutation, one in DYS19 locus, one in DYS388, two in DYS389, three in DYS391, one in DYS392 and one in DYS393 locus were noted. In total 563 different haplotypes were noted. 630 cases shared the same haplotype with someone among 1054 object studied. Even in case which showed different haplotypes, many cases showed differences only in one locus and genotypes in the remaining seven loci were the same. The discrimination between mutation and different haplotypes seems to be problematic in these situations. Experiences for the large scale haplotype data base in Koreans were described.
Alleles ; Discrimination (Psychology) ; Genotype ; Haplotypes* ; Y Chromosome*

45,X/46,XY mosaicism is a rare disorder with a wide heterogeneity in its manifestations. An 18-year-old girl was referred to the endocrine clinic for investigation of her primary amenorrhea. Clinical examination was unremarkable. Hormonal profile was consistent with primary ovarian insufficiency and human chorionic gonadotropin (hCG) stimulation did not show evidence of active testicular tissue. Karyotyping studies by G-banding revealed a 45,X/46,XY karyotype. She was diagnosed with mosaic Turner syndrome with Y chromosomal material and investigation was performed to identify the presence of male gonads due to the risk of gonadal malignancy. Magnetic resonance imaging (MRI) of the pelvis did not show evidence of gonads. Laparoscopic exploration was proposed but the patient and parents refused opting for conservative management. This case highlights the challenges in the management of this rare condition.
Gonadal Dysgenesis, Mixed ; Turner Syndrome ; Y Chromosome

The Y-chromosome, as with other chromosomes in the cell, is subject to mutations. However, unlike autosomal genes, the Y chromosome does not undergo recombination, and therefore individuals from different geographical regions may have differing distribution patterns with respect to Y-chromosome mutations. More detailed knowledge and information regarding Y-chromosome mutations might therefore provide insights into phylogenetic history and personal identification. Here, we describe a case study involving genotype-phenotype discrepancy in an Indian male individual. We found that the mistyping in sex determination was caused by a deletion in the amelogenin Y (AMEL Y) gene. Furthermore, on examining the short tandem repeat (Y-STR) loci using the PowerPlex(R) Y23 System, we found four more deleted loci on Yp11.2 (DYS576, DYS481, DYS570, and DYS458) in this sample. We performed deletion mapping for this sample, and we propose that the microdeletion on the Yp11.2 locus occurred approximately in the 6.44 Mb to 9.75 Mb region. Previous studies have reported that the AMEL Y deletion is a common mutation in the Indian population. Taking into account regional differences, we also analyzed several area-specific Y-chromosome mutations.
Amelogenin ; DNA* ; Humans ; Male ; Microsatellite Repeats ; Recombination, Genetic ; Y Chromosome*

OBJECTIVETo understand the genetic polymorphism and population difference of locus DYF155S1 on human Y chromosome.

METHODSUsing minisatellite variant repeat mapping-polymerase chain reaction (MVR-PCR), automated fluorescence detection, DNA sequence analysis, the authors studied the locus DYF155S1 of two chimpanzee and 10 human subjects from each of the following 8 groups: Northern China Hans, Southern China Hans, the Zang (Tibetan) nationality, the Uighur nationality, Japanese, Korean, Black African, White African.

RESULTSIn this study, loci DYF155S1 and DYF155S2 have been detected. There is no difference in all of the samples on the locus DYF155S2; each sample contains one type 4 repeat unit, which is the ancestor gene of locus DYF155S1. On locus DYF155S1, each individual has its specific DNA sequence. The arrangement of the repeat units differs greatly in races: arrangement 3134 in the yellow race, arrangement 134 in the white race, and arrangement null3a1a4a4 in the black race were most common. The average number of the type 4 repeat unit in the white race is much higher than that in the yellow race. The authors also found two new types of repeat unit: type 6 and type 7. Type 6 is the result of the T22A substitution on type 1, which was observed in Japanese (3 samples). Type 7 is resulted from the T22A substitution on type 3, which was observed in the Zang nationality (4 samples), Southern China Hans(1 sample), and Korean (1 sample).

CONCLUSIONLocus DYF155S1 has great genetic polymorphism and obvious population difference. Its significance should receive more attention in forensic science and human genetics research.

Chromosome Y does not recombine with any other at meiosis except that on pseudoautosomal region. Polymorphic markers on the chromosome Y are paternal inheritance and are haploidly inherited. Variance of the sequences comes from accumulated mutation. These properties make them unique and important not only to anthroponomy and genetics but also to forensic science and medicine.
Forensic Medicine ; Genetic Markers ; Humans ; Polymorphism, Genetic ; 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.

Humans ; Deafness/genetics* ; Hearing Loss, Sensorineural/genetics* ; Y Chromosome