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Shen C.-M.,Xian Jiaotong University | Wang H.-D.,Medical Genetic Institute of Henan Province | Deng Y.-J.,CAS Beijing Institute of Genomics | Wang S.-Y.,Nanjing Medical University | And 6 more authors.
Human Immunology | Year: 2013

A new human leukocyte antigen (HLA) B allele was found in a healthy male Chinese Kazak individual. Sequencing-based typing (SBT) was used to identify and analyze the difference between the new allele and the closest matching HLA-B allele. HLA-B*46 new allele has 1nt change from B*46:01:01 at nt 853 where G->C (condon 260 GTA->CTA), resulting in a coding change: 260 Val is changed to Leu. The new HLA-B*46:34 allele was identified, and was named officially by the World Health Organization (WHO) Nomenclature Committee in June 2012. The GenBank sequence accession number is JX035785. © 2012 American Society for Histocompatibility and Immunogenetics.

Zhu B.-F.,Xian Jiaotong University | Zhang Y.-D.,Xian Jiaotong University | Du W.-A.,Guangzhou University | Liu W.-J.,Xian Jiaotong University | And 7 more authors.
Electrophoresis | Year: 2015

In this study, we describe the developmental validation assay performed on a novel designed STR multiplex system, AGCU 21+1 STR kit. This kit contains a sex-determining locus amelogenin and 21 noncombined DNA index system STR loci, that are, D6S474, D12ATA63, D22S1045, D10S1248, D1S1677, D11S4463, D1S1627, D3S4529, D2S441, D6S1017, D4S2408, D19S433, D17S1301, D1GATA113, D18S853, D20S482, D14S1434, D9S1122, D2S1776, D10S1435, and D5S2500. The 21+1 kit was validated by a series of tests including optimized PCR conditions, sensitivity, precision and accuracy, stutter ratio, DNA mixture, inhibitors, and species specificity according to the revised validation guidelines issued by the Scientific Working Group on DNA Analysis Methods (SWGDAM). Our results in this study show that the kit is a useful tool for forensic application. © 2014 WILEY-VCH Verlag GmbH & Co. KGaA, Weinheim.

Wang H.-D.,Xian Jiaotong University | Wang H.-D.,Medical Genetic Institute of Henan Province | Zhang F.-X.,Ningxia Medical University | Wu Y.-M.,PLA Fourth Military Medical University | And 6 more authors.
Human Immunology | Year: 2012

Killer cell immunoglobulin-like receptors (KIRs) are expressed on natural killer cells and as such regulate their response against infection and malignancy. KIR genes are variable in gene content and type, which results in different KIR haplotypes, and can be used to discriminate individuals and populations from different regions or ethnic groups. In the present study, we represent the first report on the KIR gene frequency and content diversities of 14 KIR genes (KIR2DL1, 2DL2, 2DL3, 2DL4, 2DL5, 2DS1, 2DS2, 2DS3, 2DS4, 2DS5, 3DL1, 3DL2, 3DL3, 3DS1) and 2 pseudogenes (KIR3DP1 and 2DP1) in the Chinese Mongolian population. The 16 detected KIR genes were all observed. All the individuals were typed positive for the four framework genes KIR3DL3, 3DL2, 2DL4 and the pseudogene KIR3DP1, as well as for the pseudogene KIR2DP1. The observed carrier gene frequencies (OF) of the other KIR genes ranged from 16% at the KIR2DL2 locus to 93% at the KIR3DL1 locus. Over all, 48 different gene profiles were found in the study population and the most commonly observed KIR gene profile with a frequency of 14% consisted of KIR2DL4, 3DL2, 3DL3, 2DP1, 3DP1, 2DL1, 2DL3 and 3DL1 which belongs to the AA genotype. Principal component analysis (PCA) and the dendrogram illustrated the genetic distances between our study population and previously published populations from other ethnic groups or regions. The results of the present study show that the KIR gene family is highly polymorphic and can be a valuable tool for enriching the Chinese ethnical gene information resources, for anthropological studies, as well as for KIR gene related disease research. © 2012 American Society for Histocompatibility and Immunogenetics.

Yan J.-B.,Shanghai JiaoTong University | Yan J.-B.,Key Laboratory of Embryo Molecular Biology | Xu M.,Shanghai JiaoTong University | Xiong C.,Shanghai JiaoTong University | And 14 more authors.
BMC Medical Genetics | Year: 2011

Background: Chromosome abnormalities, especially trisomy of chromosome 21, 13, or 18 as well as sex chromosome aneuploidy, are a well-established cause of pregnancy loss. Cultured cell karyotype analysis and FISH have been considered reliable detectors of fetal abnormality. However, results are usually not available for 3-4 days or more. Multiplex ligation-dependent probe amplification (MLPA) has emerged as an alternative rapid technique for detection of chromosome aneuploidies. However, conventional MLPA does not allow for relative quantification of more than 50 different target sequences in one reaction and does not detect mosaic trisomy. A multiplexed MLPA with more sensitive detection would be useful for fetal genetic screening.Methods: We developed a method of array-based MLPA to rapidly screen for common aneuploidies. We designed 116 universal tag-probes covering chromosomes 13, 18, 21, X, and Y, and 8 control autosomal genes. We performed MLPA and hybridized the products on a 4-well flow-through microarray system. We determined chromosome copy numbers by analyzing the relative signals of the chromosome-specific probes.Results: In a blind study of 161 peripheral blood and 12 amniotic fluid samples previously karyotyped, 169 of 173 (97.7%) including all the amniotic fluid samples were correctly identified by array-MLPA. Furthermore, we detected two chromosome X monosomy mosaic cases in which the mosaism rates estimated by array-MLPA were basically consistent with the results from karyotyping. Additionally, we identified five Y chromosome abnormalities in which G-banding could not distinguish their origins for four of the five cases.Conclusions: Our study demonstrates the successful application and strong potential of array-MLPA in clinical diagnosis and prenatal testing for rapid and sensitive chromosomal aneuploidy screening. Furthermore, we have developed a simple and rapid procedure for screening copy numbers on chromosomes 13, 18, 21, X, and Y using array-MLPA. © 2011 Yan et al; licensee BioMed Central Ltd.

Wang H.-D.,Xian Jiaotong University | Wang H.-D.,Zhengzhou University | Wang H.-D.,Medical Genetic Institute of Henan Province | Liu W.-J.,Xian Jiaotong University | And 5 more authors.
Journal of Zhejiang University: Science B | Year: 2013

We studied the allelic frequency distributions and statistical forensic parameters of 21 new short tandem repeat (STR) loci and the amelogenin locus, which are not included in the combined DNA index system (CODIS), in a Russian ethnic minority group from the Inner Mongolia Autonomous Region, China. A total of 114 bloodstain samples from unrelated individuals were extracted and co-amplified with four fluorescence-labeled primers in a multiplex polymerase chain reaction (PCR) system. Using capillary electrophoresis, the PCR products of the 21 STR loci were separated and genotyped. A total of 161 alleles were observed in the Russian ethnic minority group, and corresponding allelic frequencies ranged from 0.0044 to 0.5965. The 21 non-CODIS STR loci of the Russian ethnic minority group were characterized by high genetic diversity and therefore may be useful for elucidating the population's genetic background, for individual identification, and for paternity testing in forensic practice. © 2013 Zhejiang University and Springer-Verlag Berlin Heidelberg.

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