Objective　To conduct preliminary research on the prevalence and genotyping of urogenital Chlamydia trachomatis (CT) infection in sexually transmitted disease (STD) clinics in Hainan Province, to understand the epidemiological characteristics and genotype features of the population infected with urogenital CT, and to provide evidence for the formulation of scientific prevention strategies and measures. Methods　From 2018 to 2022, a total of 5 551 male urethral swabs and female cervical swabs were collected for detection of CT infection by real-time fluorescent quantitative polymerase chain reaction (RT-PCR). The OMPL gene was amplified from the DNA of some CT positive individuals by nested PCR, and the positive results were sequenced. Sequencing results were uploaded to BLAST website to find sequence similarity and construct a phylogenetic tree to determine the genotype. Results　Out of the 5 551 tested patients, 846 were positive for Chlamydia trachomatis infection, with a positivity rate of 15.2%, the positive detection rate of CT-DNA was 18.6% in male and 13.4% in female, the positive detection rate of male was higher than that of female. There were statistically significant differences in the CT-DNA positivite detection rate among different age groups (P<0.05), and the highest positivite rate CT-DNA was 58.0% in 20-<30 years old, while it was the lowest, at 1.0%, in those over 50; there were also significant differences in CT-DNA positivity detection rate between seasons (P<0.05), with the highest being 36.4% in the summer and the lowest at 9.6% in the winter. Genotyping of the CT-OMPL gene VS1-VS2 nucleotide sequence in some samples from the Hainan region identified six genotypes, including types D, E, G, F, J, and K, with type F being the main prevalent dominant type. Conclusions　CT infection in Hainan is associated with gender, age, and season, and the genotypes are diversified. It is necessary to further strengthen the screening of CT infection in the reproductive tract of men and women of childbearing age in the future STD prevention and treatment work to improve the fertility rate.

OBJECTIVE: To carry out genetic testing for a patient with 45,X/46,XY mosaicism and autism spectrum disorder (ASD). METHODS: Peripheral blood samples of the patient and his parents were collected for the extraction of genomic DNA. Trio-based whole exome sequencing and Sanger sequencing were carried out thereafter. RESULTS: The proband and his father were found to harbor a heterozygous c.4781G>A (p.Arg1594Gln) variant of the CACNA1I gene. In addition, the proband was also found to harbor a de novo c.268C>T (p.Arg90Trp) missense variant of the MTRR gene. Based on guidelines of the American College of Medical Genetics and Genomics (ACMG), the c.4781G>A (p.Arg1594Gln) variant of the CACNA1I gene was predicted to be pathogenic (PVS1, PM1, PM2, PP3), while the c.268C>T (p.Arg90Trp) variant of the MTRR gene was predicted to be of uncertain significance. CONCLUSION Variants of the CACNA1I and MTRR genes, together with the chromosomal mosaicism, may have predisposed to the susceptibility to the ASD in this patient.
Autism Spectrum Disorder/genetics* ; Genomics ; Heterozygote ; Humans ; Mosaicism ; Whole Exome Sequencing

OBJECTIVE: To analyze the pathogenic variants of the KIF1A gene and its corresponding protein structure in an autism spectrum disorder (ASD) family trio carrying harmful missense variants in the KIF1A gene. METHODS: The peripheral blood DNA of the patient and his parents was extracted and sequenced using whole exome sequencing (WES) technology and verified by Sanger sequencing. Bioinformatics software SIFT, PolyPhen-2, Mutation Taster, and CADD software were used to analyze the harmfulness and conservation of variants. The Human Brain Transcriptome (HBT) database was used to analyze the expression of the KIF1A gene in the brain. PredictProtein and SWISS-MODEL were further used to predict the secondary structure and tertiary structure of KIF1A wild-type protein and variant protein. PyMOL V2.4 was utilized to investigate the change of hydrogen bond connection after protein variant. RESULTS: The WES sequencing revealed a missense variant c.664A>C (p.Asn222His) in the child's KIF1A gene, and this variant was a de novo variant. The harmfulness prediction results suggest that this variant is harmful. By analyzing expression level of KIF1A gene in the brain. It is found that KIF1A gene widely expressed in various brain regions during embryonic development. By analyzing the variant protein structure, the missense variant of KIF1A will cause many changes in the secondary structure of protein, such as alpha-helix, beta-strand, and protein binding domain. The connection of hydrogen bond and spatial structure will also change, thereby changing the original biological function. CONCLUSION The KIF1A gene may be a risk gene for ASD.
Autism Spectrum Disorder/genetics* ; Child ; Female ; Humans ; Kinesin/genetics* ; Mutation ; Mutation, Missense ; Pregnancy ; Protein Domains ; Whole Exome Sequencing