The widespread application of next generation sequencing (NGS) in clinical settings has enabled testing, diagnosis, treatment and prevention of genetic diseases. However, many issues have arisen in the meanwhile. One of the most pressing issues is the lack of standards for reporting genetic test results across different service providers. The First Forum on Standards and Specifications for Clinical Genetic Testing was held to address the issue in Shenzhen, China, on October 28, 2017. Participants, including geneticists, clinicians, and representatives of genetic testing service providers, discussed problems of clinical genetic testing services across in China and shared opinions on principles, challenges, and standards for reporting clinical genetic test results. Here we summarize expert opinions presented at the seminar and report the consensus, which will serve as a basis for the development of standards and guidelines for reporting of clinical genetic testing results, in order to promote the standardization and regulation of genetic testing services in China.

OBJECTIVETo explore the molecular basis of an individual with Bel variant of the ABO blood group.

METHODSThe ABO antigen and serum antibody of the individual were detected by serological method. All coding regions and flanking introns of the ABO gene were amplified with PCR and sequenced bidirectionally. The haplotypes of the individual were analyzed by cloning and sequencing. A three dimensional model of the mutant protein was constructed and analyzed.

RESULTSThe individual has expressed a very weak B antigen on its red blood cells by absorption and elution testing, which was identified as a Bel variant phenotype. The heterozygous sites in exon 6 (261del/G) and exon 7 (297A/G, 484del/G, 526C/G, 657C/T, 703G/A, 796C/A, 803G/C, 930G/A) of the coding region of the ABO gene were identified by direct sequencing. Haplotype analysis showed that the individual has carried an O01 allele and a novel B allele. The sequence of the novel B allele was identical to B101 except for a del G at nucleotide position 484 (484delG), which was nominated as B120 by the Blood Group Antigen Gene Mutation Database (dbRBC NCBI). The 484delG mutation of the B allele has led to a reading frame shift and created a premature terminal codon for the glycosyltransferase (GT) enzyme. Prediction of the 3D structure suggested that the GT enzyme has become an incomplete protein only with its N-terminal region.

CONCLUSIONThe 484delG mutation of the glycosyltransferase B gene has probably abolished or reduced the enzymatic activity and resulted in the Bel variant phenotype.

ABO Blood-Group System ; genetics ; Alleles ; Base Sequence ; Exons ; Female ; Genotype ; Glycosyltransferases ; genetics ; Humans ; Molecular Sequence Data ; Mutation ; Sequence Deletion

OBJECTIVETo understood the accuracy of oral fluid-based rapid HIV self-testing among men who have sex with men (MSM) and related factors.

METHODSSurvey was conducted among MSM selected through non-probability sampling to evaluate the quality of their rapid HIV self-testing, and related information was analyzed.

RESULTSThe most MSM were aged 21-30 years (57.0%). Among them, 45.7% had educational level of college or above, 78.5% were unmarried, 59.3% were casual laborers. The overall accuracy rate of oral fluid based self-testing was 95.0%, the handling of"inserting test paper into tube as indicated by arrow on it"had the highest accuracy rate (98.0%), and the handling of"gently upsetting tube for 3 times"had lowest accuracy rate (65.0%); Chi-square analysis showed that educational level, no touch with middle part of test paper, whether reading the instruction carefully, whether understanding the instruction and inserting test paper into tube as indicated by the arrow on it were associated with the accuracy of oral fluid-based rapid HIV self-testing, (P<0.05). Multivariate logistic regression analysis indicated that educational level, no touch with middle part of test paper and understanding instructions were associated with the accuracy of oral fluid-based rapid HIV self-testing.

CONCLUSIONSThe accuracy of oral fluid-based rapid HIV self-testing was high among MSM, the accuracy varied with the educational level of the MSM. Touch with the middle part of test paper or not and understanding the instructions or not might influence the accuracy of the self-testing.

Adult ; Demography ; HIV Infections ; diagnosis ; Homosexuality, Male ; Humans ; Male ; Mass Screening ; methods ; Saliva ; Self Care ; Surveys and Questionnaires ; Young Adult

OBJECTIVETo understand the prevalence of high risk behaviors and influencing factors among HIV infected persons aged ≥50 years.

METHODSFace to face questionnaire interview was conducted among the HIV infected persons selected in Jianshui, Gejiu and Mengzi counties in Yunnan province through random sampling in June 2015. The sample size was 450.

RESULTSAmong the HIV infected persons surveyed, 41.2% (122/296) had sexual behaviors with their spouses during past year, and the consistent condom use rate was 66.4% (81/122). Among the HIV infected males, 8.9% (28/313) had commercial sexual behaviors during past year, and the consistent condom use rate was 17.9% (5/28). Among the HIV infected females, 0.7% were still engaged in commercial sex service during past year. Among the 450 HIV infected persons, 32 (7.1%) reported having casual sex behaviors during past years, and the consistent condom use rate was 18.7% (6/32). The rate of commercial sexual behavior in urban residents (13.4%, 19/115) was higher than that in rural residents (4.5%, 9/198), the difference was statistically significant (χ(2)=11.715, P=0.001). The risk factors for commercial sex behaviors included lack of family and social support, aged 50-59 years, living in urban area, higher income and being male. The risk factors for using no condom included living in rural area, lower education level, lack of family and social support and higher income.

CONCLUSIONSRisk sex behaviors are still prevalent in HIV infected people aged >50 years, which exacerbated HIV transmission. Further efforts should be focused on the education about AIDS prevention and control and promoting protected sexual behaviors. Additional effort should be done to improve the family and social support for HIV infected people aged >50 years. Moreover, comprehensive intervention for low-paid female sex workers also needs to be strengthened.

China ; epidemiology ; Condoms ; utilization ; Female ; HIV Infections ; epidemiology ; Humans ; Male ; Middle Aged ; Prevalence ; Risk Factors ; Risk-Taking ; Sex Work ; psychology ; statistics & numerical data ; Sexual Behavior ; psychology ; statistics & numerical data ; Surveys and Questionnaires

OBJECTIVETo explore the molecular basis for an individual with rare p phenotype in the P1Pk blood group system.

METHODSErythrocyte blood group antigens and antibodies in serum were identified in the proband and five family members with a serological method. Coding regions and flanking untranslated regions of the α1,4-galactosyltransferase gene (A4GALT) encoding P1Pk antigens were amplified with polymerase chain reaction and directly sequenced. The haplotypes of A4GALT in the parents of the proband were also analyzed by cloning sequencing.

RESULTSThe proband was found with a rare p phenotype with anti-Tja antibody in his serum by serological method. The other family members all had a common P2 phenotype. The results of DNA sequencing showed that a cytosine was inserted at nucleotide position 1026 to 1029 (1026_1029insC) of both alleles of the A4GALT gene in the proband. The mutation has caused a reading frame shift and formed a mutant protein by extending 92 amino acid residues. The other family members were either heterozygous for the insertion or of the wild type at above position.

CONCLUSIONThe 1026_1029insC mutation of the A4GALT gene is probably responsible for the p phenotype identified for the first time in Chinese population. The individual with the p phenotype possesses anti-Tja antibody.

ABO Blood-Group System ; genetics ; Adult ; Alleles ; Asian Continental Ancestry Group ; genetics ; Base Sequence ; Female ; Frameshift Mutation ; Galactosyltransferases ; genetics ; Humans ; Male ; Molecular Sequence Data ; Mutagenesis, Insertional ; Pedigree ; Phenotype ; Young Adult

China ; Female ; HIV Infections ; HIV-1 ; Humans ; Incidence ; Sex Workers

OBJECTIVETo investigate the digit ratio of men who have sex with men (MSM), and the relationship between digit ratio and the partner types of MSM.

METHODSParticipants were required from Yunnan Rainbow Sky, a community organization that specialized in HIV testing, intervention and counseling services for MSM between December 2014 and April 2015. Inclusion criteria of MSM as the following: more than 18 years old; men who have had sex with men; HIV test was negative. Exclusion criteria were as this: those who couldn't attend the research due to disability. Eventually, there were 115 MSM participated in the research. According to the nationality, we adopted 1:1 matched case-control study, and we selected 115 men as control group. According to the partner number of MSM, the MSM were divided into two groups. One group was fixed partner and another was multi-partner. We used a questionnaire to collect the demographic characteristics, knowledge about HIV/AIDS, sexual behaviors during nearly 6 months, sexual orientation, the places where looked for sex partners, sex roles, drug use, preventive services etc. Then, the physical measurements were used to measure the length from second to the fifth finger in MSM group and control group. The results were expressed as nD. The chi-square test was used to compare the demographic differences between MSM group and the control group, and the T-test was used to compare the digit ratio between two groups.

RESULTSAmong 115 MSM, there were 26% (30/115) MSM who had a fixed partner, and there were 74% (85/115) MSM who had multi-partner. The mean values of digit ratio of MSM presented a trend as 2D:3D < 2D:4D < 3D:4D < 2D:5D < 4D:5D < 3D:5D. The right 2D:4D and 2D:5D of MSM were 0.957 7 ± 0.048 1 and 1.229 8 ± 0.083 4, and the mean value was significasntly higher than control group (0.941 4 ± 0.038 0 and 1.204 1 ± 0.069 5, t values were 2.84, 2.54 and P values were 0.005, 0.012). The right 2D:4D of the fixed partner group and multi-partner group among MSM were 0.962 2 ± 0.051 0 and 0.956 1 ± 0.047 3, respectively, and the mean values were significantly higher than control group (t values were 2.98, 2.83; P values were 0.027, 0.015).

CONCLUSIONThe proportion of multi-partner MSM was higher, so MSM at a high risk of being HIV infected. Right 2D:4D could be used as a biomarker of the MSM in Kunming, but couldn't reflect the features of MSM whether he has a fixed partner or has several partners.

Case-Control Studies ; China ; Fingers ; anatomy & histology ; HIV Infections ; Homosexuality, Male ; Humans ; Male ; Risk-Taking ; Sexual Partners ; Surveys and Questionnaires

HIV Antibodies ; chemistry ; HIV Infections ; diagnosis ; Humans ; Pharmacies ; Pilot Projects ; Reagent Kits, Diagnostic ; Saliva ; chemistry

China ; Female ; HIV Infections ; HIV-1 ; Humans ; Incidence ; Pregnancy ; Prevalence ; Sentinel Surveillance

OBJECTIVETo identify the candidate chromosomal region for congenital preauricular fistula (CPF) through analysis of an affected Chinese family.

METHODSConventional linkage analysis using short tandem repeats (STR) markers was performed to investigate three chromosomal regions 8q11.1-q13.3, 1q32-q34.3 and 14q31.1-q31.3.

RESULTSNone of 16 STRs could attain a LOD score of more than -2.0 (theta=0). Therefore, the three regions were all excluded as the candidate region for the disease.

CONCLUSIONCPF features high genetic heterogeneity. The family may have a causative gene elsewhere. Whole-genome-based study is needed to identify its genetic etiology.

Adult ; Asian Continental Ancestry Group ; genetics ; China ; Chromosomes, Human, Pair 1 ; genetics ; Chromosomes, Human, Pair 14 ; genetics ; Chromosomes, Human, Pair 8 ; genetics ; Craniofacial Abnormalities ; genetics ; Female ; Humans ; Lod Score ; Male ; Microsatellite Repeats ; Pedigree