A Case of Type 1 Triallelic Patterns at D5S818, D18S51, D6S1043, and FGA Demonstrated by Short Tandem Repeat Analysis.

The triallelic pattern of short tandem repeat (STR) is rare; especially, the case where this pattern exists at 4 loci has not been reported. Here, we report the type 1 triallelic patterns at D5S818, D18S51, D6S1043, and FGA from a Chinese family, which were observed during our routine chimerism assays. Before hematopoietic stem cell transplantation, the blood sample of the certain patient was analyzed by performing chimerism analysis. A preliminary STR analysis was also performed on the samples of the patient's parents. STR signal data illustrated that the sum of the peak chart areas of the two types inherited from the father was basically the same as that of the mother, belonging to the type 1 triallelic pattern. In addition, the patient's elder sister's STR result appeared to be normal. Altogether, we presented a pedigree, in which the triallelic pattern was linked by inheritance in the family. This is the first reported case of the triallelic pattern at D5S818, D18S51, D6S1043, and FGA all around the world. We hope that in the future there will be any tools to achieve accurate verification against this possibility.

Distribution of killer cell immunoglobulin-like receptor (KIR) genes in a large, multi-centre cohort of Chinese donors.

BACKGROUND: The killer cell immunoglobulin-like receptor (KIR), which mediates the killing function of NK cells, is an attractive candidate for adoptive cellular therapy. The ethnic distribution for China provides a unique opportunity to investigate KIR gene distribution. AIM: The aim of this study was to explore the relationship between population history and the rapidly evolving KIR genetic diversity. SUBJECTS AND METHODS: 8050 Chinese donors from 184 hospitals were included to analyse frequency, haplotype, and B-content data of 16 KIR genes, by PCR-SSP for KIR genotyping. RESULTS: KIR gene carrier frequencies were found similar to those observed in other studies on Han, but different from Thais, Japanese, Africans, and populations of West Eurasian ancestry. High-frequency KIR genotype profiles found in the present population were consistent with other studies on Han populations but different from those conducted on other cohorts. The majority of our cohort carried group A KIR gene motifs. Additionally, populations with similar geographic locations in China were shown clustered together, while Hainan and Xinjiang provinces were slightly separated from these. CONCLUSION: The distribution of KIR genes varies by geographic region, and different ethnic groups may be a confounding factor of KIR diversity.

Tri-allelic patterns at the D7S820 locus detected in two generations of a Chinese family.

Alleles at the D7S820 STR locus have 6-14 different numbers of a four-nucleotide (GATA) repeat motif arranged in tandem. The D7S820 tri-allelic pattern is rare and has not been reported in the Chinese population. In this study we report a three-banded pattern at the D7S820 locus observed in a Chinese family, in which four family members in two generations had tri-allelic D7S820 genotype 10-11-12 and one family member had an abnormal bi-allele genotype 10-11. All of the four tri-allelic cases had the genotype 10-11-12, probably due to three copies of the D7S820 STR sequence in all cells (Type 2 tri-allelic pattern), and deduced alleles 10-11 were a linked inheritance in this family.

HLA Class II alleles and association with HPV Infection prevalence in high-risk HPV-positive Han women in southern China.

OBJECTIVE: To investigate the prevalence of different human papillomavirus (HPV) subtypes and their association with human leukocyte antigen (HLA) class II alleles in China. PATIENTS AND METHODS: A total of 16,168 married Chinese women in Maoming City of Guangdong province were tested for high-risk HPV infection. High-resolution typing of HLA-DRB1/DQB1 alleles was also performed on samples found to be infected with HPV. RESULTS: All in all, HPV-52, -58, -16, -18, and -53 were the five most common subtypes of HPV, with an incidence of high-risk HPV infection of 7.14%. Among women at high-risk of HPV infection, -DRB1*0403 (3.12% vs. 1.67%, odds ratio [OR] 1.894), -DQB1*0602 (3.74% vs. 1.82%, OR 2.094), and -DQB1*0609 (2.02% vs. 0.91%, OR 2.249) frequencies were higher than in controls. In contrast, -DQB1*0402 (0.31% vs. 1.29%, OR 0.239) in women with high-risk HPV infection exhibited a significantly decreased frequency compared to the controls. CONCLUSION: Our results strongly support previous findings from other populations that -DRB1*0403 and -DQB1*0602 may be risk factors for HPV infection and subsequent development of cervical cancer. Moreover, unlike the European population, -DQB1*0402 may protect rather than render Maoming women susceptible to HPV infection.