NAPG mutation in family members with hereditary hemorrhagic telangiectasia in China.

Background: Hereditary hemorrhagic telangiectasia (HHT) is a disease characterized by arteriovenous malformations in the skin and mucous membranes. We enrolled a large pedigree comprising 32 living members, and screened for mutations responsible for HHT.

Methods: We performed whole-exome sequencing to identify novel mutations in the pedigree after excluding three previously reported HHT-related genes using Sanger sequencing.

Single-cell sequencing and its application in breast cancer.

Breast cancer originates from ducts and epithelial cells, and gradually develops from hyperplasia to atypical hyperplasia, (adeno) carcinoma, to early and advanced invasive carcinoma. Traditional high-throughput sequencing mainly aims to identify candidate 'driver genes' attributable to development and progression of breast cancer, which has deficiencies in characterizing genomic structure alteration and subclone evolution, and thus ignores intratumoral, intertumoral or interpatient heterogeneity. The single-cell sequencing technology analyzes transcriptome (e.

Targeted capture sequencing identifies novel genetic variations in Chinese patients with idiopathic inflammatory myopathies.

Objectives: Previous association studies have identified genetic variants in the human leukocyte antigen (HLA) complex as substantial risk factors for idiopathic inflammatory myopathies (IIMs). However, a great number of genes are located in the HLA region, and thus fine mapping is quite necessary.

Methods: Targeted capture sequencing were performed on the whole HLA region in 42 IIM patients and 24 healthy controls.

Discovery of susceptibility loci associated with tuberculosis in Han Chinese.

Genome-wide association studies (GWASs) have revealed the worldwide heterogeneity of genetic factors in tuberculosis (TB) susceptibility. Despite having the third highest global TB burden, no TB-related GWAS has been performed in China. Here, we performed the first three-stage GWAS on TB in the Han Chinese population.

[Involvement of sympathetic nervous system in the pathogenesis of hypertension].

Sustained activation of sympathetic nervous system in response to stimulation of a wide variety of stress factors is an independent risk factor for the development of essential hypertension. Adrenal hormone biosynthesis pathway as an important part of the sympathetic nervous system consists of hormones, neurotransmitters, receptors, and a variety of synthases and invertases. In this article, we have systematically reviewed research progresses made in elucidating the interactions between genes of the adrenal hormone biosynthesis pathway and stress factors in the pathogenesis of essential hypertension.

Mapping and localization of susceptible genes in asthma.

Objective: To elucidate the development of mapping and localization of susceptible genes on chromosomes to asthma related phenotypes.

Data Sources: Published articles about susceptibility genes for asthma related phenotypes were selected using PubMed.

Study Selection: Using methods of candidate gene positional clone and genome-wide scan with linkage and association analysis to determine the location in the genome of susceptibility genes to asthma and asthma related phenotypes.

New insight into the genes susceptible to asthma.

There is considerable worldwide interest in identifying genes related to susceptibility to asthma. Progress has been slow in part because of the complexity and heterogeneity of the disease. Although at least 170 genes located on 10 chromosomes have been associated with or in linkage with asthma and asthma-related phenotypes, the majority of the reports have either been preliminary or the results have been controversial.

[Comparison on mitochondrial ATP6, ATP8 and Cyt b genes between Chinese Tibetans in three different zones: detecting the signature of natural selection on mitochondrial genome].

Mitochondrial DNA (mtDNA) differs from nuclear genome in many aspects such as lack of recombination, thus the investigation of mtDNA plays an essential role in human evolutionary history. We compared different sequences (approximately 2 kb) of ATP6, ATP8 and Cyt b genes in mtDNA among Tibetans in three different zones and found that the whole mtDNA sequences of the three genes, ATP6 and ATP 8 genes deviate gradually from neutral model with the increase of altitudes, yet no differences were observed. Also we found that the effect of purifying selection on Cyt b gene was elevated with the decrease of altitudes.

[Comparative analysis of the complete mitochondrial genome between Tibetan and Han population].

Objective: To construct the haplogroup and perform an analysis of mitochondrial whole-genome sequence in Tibetan and Han Chinese. Variations of nucleotide of mitochondrial DNA (mtDNA) were identified and compared between the Tibetan and Han population.

Methods: The mtDNA whole sequences of 40 Tibetan and 50 Han individuals were sequenced by an Applied Biosystems 3730 DNA automatic sequencer.

[Construction of haplotype and haplotype block based on tag single nucleotide polymorphisms and their applications in association studies].

Human genome has structures of haplotype and haplotype block which provide valuable information on human evolutionary history and may lead to the development of more efficient strategies to identify genetic variants that increase susceptibility to complex diseases. Haplotype block can be divided into discrete blocks of limited haplotype diversity. In each block, a small fraction of ptag SNPsq can be used to distinguish a large fraction of the haplotypes.

Correlation between haplotype of apolipoprotein B gene and natural longevity persons in Uygur nationality.

This paper investigated the correlation between polymorphisms and haplotypes in the apolipoprotein B (apoB) gene (SP-I/D, Xbal-RFLP, VNTR) and natural longevity persons among the Uygur people in Xinjiang. For this purpose, 191 healthy Uygur individuals aged above 90 from Hetian area of Xinjiang were recruited, and another 53 persons aged 65-70 from the same nationality, the same region and with the same gender ratio, served as the control group. Genotyping was performed by PCR-SSP, PCR-RFLP and PCR-sequencing methods.

Interaction and relationship between angiotensin converting enzyme gene and environmental factors predisposing to essential hypertension in Mongolian population of China.

Objective: To investigate the association of specific functional gene ACE (I/D) variants of the renin-angiotensin system with essential hypertension (EH) and interaction between ACE (I/D) gene and risk factors for EH in a genetically homogenous Mongolia rural population of China.

Methods: Individuals (n=1099) were recruited from general population of Kezuohouqi Banner in Inner Mongolian Autonomous Region.

Results: The association was found between ACE genotype DD plus ID and EH, with an interaction between ACE genotype DD plus ID and cigarette smoking in an additive model.