Vietnam is the homeland of 54 different ethnicities that belong to 5 major language families of the world, including Austroasiatic, Tai-Kadai, Hmong-Mien, Sino-Tibetan and Austronesian. Hmong-Mien, an ethnolinguistic family, presumably stemmed from Southern China and later spread to the Southeast Asia region. In this study, we analyzed the mitochondrial DNA sequences taken from 120 males belonging Hmong-Mien (HM) language family in Vietnam: Dao, Hmong, and Pathen, revealing 352 unique variants. Dao has the most number of polymorphisms (230 unique SNPs occurring 1469 times), followed by Hmong (181 unique SNPs occurring 1367 times) and Pathen (159 SNPs occurring 1243 times). Genetic variations within each population and among Hmong-Mien speakers were further measured by computations of haplotype diversity (H), nucleotide diversity (π) and fixation index (FST). There are nine major haplogroups (A, B, C, D, F, G, M, N9, and R) detected, with F and B making up over half of each population (Hmong: 56.09% (23/41), Pathen: 58.33% (21/36), Dao: 62.79% (27/43)). Haplotype classification was further divided into 30 haplogroups, of which 80% of them were specific to a single minority. Dao remained the most genetically diverse (H=0.957), while Pathen was the most homogeneous population (H=0.900). In terms of genetic distance, Dao and Hmong were more distinguished from each other, while Hmong and Pathen were more related. Complete mtDNA sequences of Viet HM speakers increased the mtDNA depository, improving the understanding of the genetic structure underlying this language family.
Male infertility is a reproductive disease in men caused by multiple factors ranging from harmful lifestyle habits to endogenous genetic elements. This study aimed to investigate the association between the polymorphism AhRR rs2292596 and male infertility. Total DNA was extracted from blood of 422 Vietnamese samples including 218 non-obstructive azoospermic and oligozoospermic patients and 204 healthy controls. The genotypes of the polymorphism were determined by PCR-RFLP method. The distribution of genotypes and their relationship with male infertility were analyzed by statistical methods. The results indicated that rs2292596 AhRR followed Hardy-Weinberg equilibrium (p-value > 0.05). However, there was association between the rs2292596 polymorphism and male infertility in the three models (additive, dominant, and recessive) (p-value > 0.05). The investigation would help enrich the knowledge about the influences of genetic factors on male infertility in the Vietnamese population.
Collagen type VI-related disorders consist of Ullrich congenital muscular dystrophies (UCMD) and Bethlem myopathy, in which these entities are at two opposite extremes of the phenotype continuum. Clinical characteristics include proximal joint contracture, distal joint hyperlaxity, generalized muscle weakness, normal cognitive function, and pulmonary insufficiency. Affected individuals have trouble standing up and walking independently. Mutations in 3 genes (COL6A1, COL6A2, and COL6A3) are associated with decreasing collagen-VI production and disrupting the microfibrillar network between skeletal muscles. In the present study, using whole-exome sequencing (WES), a pathogenic variant in the COL6A1 gene (NM_001848, c.868G>C, p.G290R) was detected in a Vietnamese family with UCMD patients. Segregation analysis by Sanger sequencing confirmed that this mutation was inherited in an autosomal dominant pattern. This study expands the breadth of congenital muscular dystrophies research landcape and underscores the efficiency of WES in investigating the etiology of this group of heterogeneous diseases. Insight about the underlying genetic causes could contribute to develop a well-timed treatment regimen and help patients make an informed decision about reproductive health.
Emery-Dreifuss muscular dystrophy (EDMD) is a degenerative neuromuscular disease associated with at least nine genes, including EMD, LMNA, FHL1, TMEM43, SUN1, SUN2, TTN, SYNE1, and SYNE2. Herein, we identified a heterozygous missense LMNA mutation (NM_170707.4: c.1357C>T,p.R453W) in three members of a Vietnamese family using whole-exome sequencing (WES), in which the proband was an 11-year-old girl presenting humeroperoneal muscle weaknesses and generalized contracture. Her father and one other relative also exhibited multiple signs of muscular atrophy and contracture. Sanger sequencing in the extended family verified the causative nature of this mutation, establishing a confirmed diagnosis of autosomal dominant Emery-Dreifuss muscular dystrophy (EDMD2). The clinical presentations of each patient in this study are different from each other, demonstrating the intrafamilial phenotypic variability of this mutation. Early identification of the underlying genetic course of the disease by sequencing, combined with clinical findings provides solid evidence to diagnosis process, genetic counseling and management strategy.
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