Multiple morphological abnormalities of sperm flagella (MMAF) is a severe form of asthenoteratozoospermia, characterized by morphological abnormalities and reduced motility of sperm, causing male infertility. Although approximately 60% of MMAF cases can be explained genetically, the etiology of the remaining cases is unclear. Here, we identified two novel compound heterozygous variants in the gene, dynein axonemal heavy chain 10 ( DNAH10 ), in three patients from two unrelated Pakistani families using whole-exome sequencing (WES), including one compound heterozygous mutation ( DNAH10 : c.9409C>A [p.P3137T]; c.12946G>C [p.D4316H]) in family 1 and another compound heterozygous mutation ( DNAH10 : c.8849G>A [p.G2950D]; c.11509C>T [p.R3687W]) in family 2. All the identified variants are absent or rare in public genome databases and are predicted to have deleterious effects according to multiple bioinformatic tools. Sanger sequencing revealed that these variants follow an autosomal recessive mode of inheritance. Hematoxylin and eosin (H&E) staining revealed MMAF, including sperm head abnormalities, in the patients. In addition, immunofluorescence staining revealed loss of DNAH10 protein signals along sperm flagella. These findings broaden the spectrum of DNAH10 variants and expand understanding of the genetic basis of male infertility associated with the MMAF phenotype.
Adult ; Humans ; Male ; Alleles ; Asthenozoospermia/pathology* ; Axonemal Dyneins/genetics* ; Dyneins/genetics* ; Exome Sequencing ; Infertility, Male/pathology* ; Mutation ; Pakistan ; Pedigree ; Sperm Tail/pathology*

OBJECTIVETo investigate the prevalence and distribution of hepatitis C virus (HCV) genotypes in Henan province in 2012.

METHODSA total of 32 203 permanent residents (1 to 74 years old) in Henan were recruited using multi-stage random samping method from March to June 2012. All participants were asked to complete a questionnaire to collect demographic information, past medical history and the exposure history of risk factors. A blood sample of 5 ml was collected at the same time. The condition of anti-HCV and HCV RNA was determined through the ELISA test and nested RT-PCR. HCV RNA positive samples were further subject to the nonstructural protein 5 region (NS5B) gene amplification and sequencing. The sequence was amplified for the phylogenetic tree and genetic analysis. The differences of the positive rate of anti-HCV and HCV RNA and the HCV genetic subtype distribution in different respondents'characteristics were analyzed.

RESULTSAmong 32 203 subjects, the overall positive rate of anti-HCV and HCV RNA were 0.48% (153/32 203) and 0.24% (78/32 203), in which men were 0.42% (65/15 634), and 0.23% (36/15 634), and women were 0.53% (88/16 569) and 0.25% (42/16 596). The differences between men and women were not statistically significant (χ(2) values were 2.26, 0.18, respectively, both P values > 0.05). The results of NS5B genotyping and molecular evolution analysis showed that there were six subtypes in the 71 HCV RNA positive samples.In those six subtypes, the proportion of genotypes 1b, 6a, 3a, 2a, 3b and 1a were 56.3% (40/71), 19.7% (14/71), 11.3% (8/71), 8.5% (6/71), 2.8% (2/71) and 1.4% (1/71), respectively. The HCV genetic subtypes of infestor were mainly present with two branches of 1b and 6a, and the two subtypes Bootstrap values were 0.95.

CONCLUSIONThe prevalence of HCV infection was high in Henan. The major HCV genotypes in patients with HCV infection were 1b and 6a.

Adolescent ; Adult ; Aged ; Child ; Child, Preschool ; China ; epidemiology ; Female ; Genotype ; Hepacivirus ; classification ; genetics ; Hepatitis C ; epidemiology ; virology ; Humans ; Infant ; Male ; Middle Aged ; Phylogeny ; RNA, Viral ; genetics ; Sequence Analysis, DNA ; Young Adult

OBJECTIVETo investigate the tumor-associated antigen CA125 expression in the serum and cervical and vaginal secretions in women during normal reproductive period, and explore the clinical value of detecting tumor markers in the cervical and vaginal secretions.

METHODSA total of 145 women in reproductive period were divided into 3 age groups (20-29 years, 30-39 years, and over 40 years), and their CA125 levels in cervical secretion, vaginal secretion and serum were detected by automatic electro-chemiluminescent immunoassay.

RESULTSCA125 levels in the cervical secretion, vaginal secretion and serum showed no significant difference between the 3 age groups (P>0.05). In each group, CA125 levels differed significantly between the cervical secretion, vaginal secretion and serum (P<0.001). In the 145 women, the average CA125 level was 497.82 - or + 75.29 U/ml in the cervical secretion, 114.66 - or + 26.40 U/ml in vaginal secretion and 18.06 - or + 3.35 U/ml in serum, showing significant differences between them (P<0.001).

CONCLUSIONCA125 expression level is significantly higher in the cervical and vaginal secretions than in the serum in women in normal reproductive period, and its levels in cervical and vaginal secretions can be more sensitive and convenient for early detection of related diseases.

Adult ; Biomarkers ; analysis ; CA-125 Antigen ; blood ; metabolism ; Cervix Mucus ; metabolism ; Female ; Humans ; Middle Aged ; Vagina ; secretion ; Young Adult