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Sen Yang

Publications and source records attributed to Sen Yang.

At least 37 records · Page 2Linked to original sources
PubMed2005

Association of HLA-DQA1 and DQB1 alleles with alolpecia areata in Chinese Hans.

Accumulative evidences have shown that certain HLA loci are associated with alopecia areata (AA), but with existing differences in ethnic distribution. No report has ever been published about this in Chinese Hans. To investigate whether HLA-DQA1 and DQB1 alleles are associated with AA, and the correlation of the HLA profile with age of onset, severity, duration of current attack, recurrence and family history of AA in Chinese Hans. The polymerase chain reaction-sequence-specific primer (PCR-SSP) method was used to analyze the distribution of HLA-DQA1 and DQB1 alleles in 192 patients with AA and 273 healthy controls in Chinese Hans. The significant increased frequencies of HLA-DQA1*0104 (OR=3.38, P(c)<0.001), HLA-DQB1*0604 (OR=5.17, P(c)=0.006) and HLA-DQA1*0606 (OR=3.73, P(c)<0.001) were observed in patients compared with controls. The DQA1*0104-DQB1*0604, DQA1*0104-DQB1*0606, and DQA1*0302-DQB1*0606 were found as high-risk haplotypes in developing AA in this study. HLA-DQA1*0104 (OR=5.31, P(c)<0.001) and -DQB1*0604 (OR=5.56, P(c)=0.015) were more prevalent only in AA patients with long duration than controls. The frequencies of HLA-DQB1*0604 (OR=5.42, P(c)=0.009) and -DQB1*0606 (OR=4.11, P(c)<0.001) were obviously increased in patients less than 50% scalp hair loss. No locus was merely associated with early onset, severe involvement, recurrence and a positive family history of AA. This study demonstrated the positive association of HLA-DQA1 and DQB1 alleles and haplotypes with AA. There may be differences in genetic background in patients with different duration.

Adolescent↗
PubMed2005

Association of HLA class I alleles with aloplecia areata in Chinese Hans.

BACKGROUND: Some studies suggested that human HLA status may potentiate development of the AA phenotype and exists ethic differences. No report has been published about HLA class I alleles associated with AA in Chinese Hans. OBJECTIVE: To study the distribution of HLA class I alleles and haplotypes in Chinese Hans AA patients and the relation of HLA class I profile with age of onset, severity, duration of current attack, past history and family history. METHODS: The polymerase chain reaction-sequence-specific primer (PCR-SSP) method was used to analyze the distribution of HLA class I alleles in 192 patients with AA and 252 healthy controls in Chinese Hans. RESULTS: The frequencies of HLA-A*02, -A*03, -B*18, -B*27, -B*52 and -Cw*0704 were significantly higher in patients than in controls. The A*2-B*18, A*2-B*27, A*2-B*52, A*2-Cw*0704, B*18-Cw*0704, B*27-Cw*0704, B*52-Cw*0704 were found as high-risk haplotypes in developing AA in this study. The HLA-A*02 and -A*03 were observed increased frequencies in patients less than 50% hair loss, and HLA-B*27 equally in patients of 50-99% hair loss, alopecia totalis and alopecia universalis. The frequencies of HLA-A*02 and -B*27 were significantly raised in recurrent patients, and ones of HLA-A*02, -A*03 and -B*27 similarly in patients without a positive family history. CONCLUSION: This study demonstrated the positive association of HLA class I alleles and haplotypes with AA. There may be differences in genetic background in patients with different age of onset, grade of scalp hair loss, duration of current attack, a past history and a family history.

Adolescent↗
PubMed2005

A novel linkage to generalized vitiligo on 4q13-q21 identified in a genomewide linkage analysis of Chinese families.

Generalized vitiligo is a common, autoimmune, familial-clustering depigmentary disorder of the skin and hair that results from selective destruction of melanocytes. Generalized vitiligo is likely a heterogeneous disease, with five susceptibility loci reported so far--on chromosomes 1p31, 6p21, 7q, 8p, and 17p13--in white populations. To investigate vitiligo susceptibility loci in the Chinese population, we performed a genomewide linkage analysis in 57 multiplex Chinese families, each with at least two affected siblings, and we identified interesting linkage evidence on 1p36, 4q13-q21, 6p21-p22, 6q24-q25, 14q12-q13, and 22q12. Subsequently, to extract more linkage information, we investigated our initial genomewide linkage findings in a follow-up analysis of 49 new families and additional markers. Our initial genomewide linkage analysis and our subsequent follow-up analysis have identified a novel linkage to vitiligo on 4q13-q21, with highly significant linkage evidence (a nonparametic LOD score of 4.62 [P=.000003] and a heterogeneity LOD score of 4.01, under a recessive inheritance model), suggesting that 4q13-q21 likely harbors a major susceptibility locus for vitiligo in the Chinese population. We observed a minimal overlap between the linkage results of our current genomewide analysis in the Chinese population and the results of previous analyses in white populations, and we thus hypothesize that, as a polygenic disorder, vitiligo may be associated with great genetic heterogeneity and a substantial difference in its genetic basis between ethnic populations.

China↗
PubMed2005

Identification of a novel mutation in the DSRAD gene in a Chinese pedigree with dyschromatosis symmetrica hereditaria.

Dyschromatosis symmetrica hereditaria (DSH) is an autosomal dominant skin disorder characterized by a mixture of hyperpigmented and hypopigmented macules distributed on the face and dorsal aspects of the extremities that appear in infancy or early childhood. The DSH locus has recently been mapped to chromosome 1q21 and then pathogenic mutations have been identified in the DSRAD gene. In the study reported here we examined the DSRAD gene mutations of a three-generation Chinese pedigree with DSH by direct sequencing. We identified a novel heterozygous nucleotide T-->C transition at position 3388 in exon 14 of the DSRAD gene which induces a C1130R change in the putative deaminase domain of DSRAD. Our study expands the database on the DSRAD gene mutations in DSH and enriches the knowledge about the function of the DSRAD gene.

Adenosine Deaminase↗
PubMed2005

Two frameshift mutations in the RNA-specific adenosine deaminase gene associated with dyschromatosis symmetrica hereditaria.

OBJECTIVE: To report and analyze the mutations of the double-stranded RNA-specific adenosine deaminase (DSRAD) gene in 2 Chinese pedigrees with dyschromatosis symmetrica hereditaria (DSH). DESIGN: Pedigree study. SETTING: Anhui province of China. PATIENTS: Two Chinese families, consisting of 19 individuals (family 1) and 5 individuals (family 2). INTERVENTIONS: We directly performed mutation detection of the DSRAD gene in 2 Chinese families with DSH by sequencing. The whole coding region of DSRAD was amplified by polymerase chain reaction, and products were analyzed by direct sequencing. MAIN OUTCOME MEASURES: Frameshift DSRAD gene mutations. RESULTS: The c.3513insC (Arg1171fs) mutation was found in all patients but not in the healthy individuals from family 1, and the c.3220_3224delGCATC (Gly1073fs) mutation was found in 2 patients but not in the healthy members of family 2. These 2 mutations were not found in 96 unrelated control individuals. CONCLUSION: Our data suggest that these 2 novel frameshift mutations in the DSRAD gene could cause DSH in the Chinese Han population and add new variants to the repertoire of DSRAD mutations in DSH.

Adenosine Deaminase↗
PubMed2005

STD/AIDS knowledge, attitude, practice, and characteristics of market vendors in Hefei, China.

Little is known about the information on sexually transmitted disease (STD)/AIDS in the population working in congregating trading markets in China. A cross-sectional study was conducted among three big congregating trading markets in Hefei City. Seven hundred fifty-two market vendors completed a questionnaire, 333 of two markets provided specimen for STD/HIV testing. The majority of market vendors in China are sexually active youths and adults, and have little education. The market vendors had poor knowledge of STD/AIDS. The rates of correct answers to questions about STD/AIDS varied between 21.1%-81.9%. More than 50% of the market vendors had a negative attitude toward HIV-infected individuals. Among the subjects, 27.6% had had premarital or extramarital sex; 15.9% reported using condoms in the past 12 months. Among those who provided specimens, 3.9% were identified with STD, approximately 9 times higher than that in the general population of Hefei (0.4%). Our study suggests China should implement STD/HIV prevention interventions for market vendors to prevent STD/HIV infection.

Adult↗
PubMed2005

Identification of a novel locus for Marie Unna hereditary hypotrichosis to a 17.5 cM interval at 1p21.1-1q21.3.

Marie Unna hereditary hypotrichosis (MUHH) is a rare autosomal dominant disorder characterized by coarse, wiry, twisted hair developed in early childhood and followed by the development of alopecia. A locus for this disorder was localized to chromosome 8p, but no gene responsible for it has been identified. To map and determine whether MUHH is a genetically heterogeneous disorder and identify the disease gene locus in a four-generation Chinese family with MUHH. We performed a genome-wide scan in this family. Two-point linkage analysis was performed using Linkage programs version 5.10 software and haplotype was constructed with Cyrillic Version 2.02 software. We failed to confirm the previous locus for MUHH at chromosome 8p and obtained the conformed evidence for linkage at chromosome 1. Two-point logarithm of odds ratio scores > or =3 were observed at markers D1S2746 and D1S2881. Haplotype analysis localized this locus to a 42 Mb region. The previous results and this study have shown that MUHH is a genetically heterogeneous disorder. Our family was mapped to a 17.5 cM region between markers D1S248 and D1S2345.

Adult↗
PubMed2005

Association of HLA-DQA1 and DQB1 genes with vitiligo in Chinese Hans.

BACKGROUND: Vitiligo is an acquired depigmentary disorder of the skin and hair which results from selective destruction of melanocytes. Serological typing and genotyping of human leukocyte antigen (HLA) have shown discrepancies in HLA associations with vitiligo in different ethnic populations. METHODS: Polymerase chain reaction sequence-specific primer (PCR-SSP) method was used to analyze the distribution of HLA-DQA(1) and -DQB(1) alleles among 187 patients with vitiligo and 273 healthy controls through Epi Info version 6 package (Centers for Disease Control and Prevention, Atlanta, GA, USA). RESULTS: The frequencies of HLA-DQA1*0302 (OR = 1.98, P(c) < 0.01), -DQB1*0303 (OR = 3.14, P(c) < 0.001), and -DQB1*0503 (OR = 3.36, P(c) < 0.05) alleles were significantly increased in patients with vitiligo compared with controls, and HLA-DQA(1)*0501 (OR = 0.40, P(c) < 0.01) allele frequency was highly decreased. HLA-DQA1*0302 (OR = 5.19, P(c) < 0.001), -DQA1*0601 (OR = 2.95, P(c) < 0.05), -DQB1*0303 (OR = 4.50, P(c) < 0.001), and -DQB1*0503 (OR = 6.69, P(c) < 0.001) alleles were positively associated, whereas HLA-DQA1*0501 (OR = 0.05, P(c) < 0.001) allele was negatively associated with childhood vitiligo patients, and HLA-DQB1*0303 (OR = 2.76, P(c) < 0.001) allele was positively associated with adult vitiligo patients compared with controls. The frequency of HLA-DQB1*0303 (OR = 3.72, P(c) < 0.001) allele was significantly increased in localized vitiligo patients vs. controls, whereas HLA-DQA1*0302 (OR = 2.47, P(c) < 0.01), -DQB1*0303 (OR = 2.67, P(c) < 0.01), and -DQB1*0503 (OR = 4.46, P(c) < 0.01) allele frequencies were significantly increased and -DQA1*0501 (OR = 0.27, P(c) < 0.01) allele frequency was highly decreased in generalized vitiligo patients. CONCLUSIONS: HLA-DQA1*0302, -DQA1*0601, -DQB1*0303, and -DQB1*0503 alleles could be susceptible alleles of vitiligo, while HLA-DQA1*0501 allele could be a protective allele in Chinese Hans. There may be different genetic backgrounds between vitiligo patients of childhood and adult, localized and generalized.

Adolescent↗
PubMed2005

[Enzymatic hydrolysis of steam-exploded rice straw in membrane bioreactor].

An ultrafiltration membrane bioreactor consisted of 1 - 6 enzymatic vessel was used to increase the reducing sugar concentration. The effects of enzyme loading, the number of enzymatic vessel and the dilution rate on enzymatic hydrolysis of steam-exploded rice straw were studied. The results show that the best condition is: 20FPU/g, four enzymatic vessels and 0.075/h (D). Compared with traditional batch reaction, the conversion of substrate increased significantly from 18% - 21% to 39.5%. Compared with the ultrafiltration membrane bioreactor consisted of one enzymatic vessel, the production of reducing sugar increased from 0.25 g/ g to 0.4g/g, and the final reducing sugar concentration in the product stream increased from 4.56g/L to 27.23g/L.

Bioreactors↗
PubMed2004

A novel missense mutation of the ATP2A2 gene in a Chinese family with Darier's disease.

Darier's disease (DD) is an autosomal dominant skin disorder that is characterized by multiple keratotic papules, focal loss of adhesion and abnormal keratinization. Mutations in the ATP2A2 gene encoding sarco/endoplasmic reticulum calcium pumping ATPase type 2 have been identified as the molecular basis of DD. We report here a three-generation family with DD, and examined ATP2A2 gene mutations in this family by direct sequencing. A novel missense mutation A-->G was identified in exon 12, nucleotide 1704, which leads to the substitution of lysine by arginine at codon 514 (K514R). This study contributes to the database on ATP2A2 in DD, and further illustrates the extensive diversity of mutational events that lead to the different phenotypes of DD.

Adenine↗
PubMed2004

CYLD mutation causes multiple familial trichoepithelioma in three Chinese families.

Multiple familial trichoepithelioma (MFT) and familial cylindromatosis are two clinically distinct cancer syndromes. MFT patients developed mostly trichoepithelioma in the face while cylindromatosis patients developed cylindromas predominantly (approximately 90%) on the head and neck. However, multiple familial trichoepithelioma is occasionally associated with familial cylindromatosis while cylindromatosis patients can also develop trichoepithelioma. This has led to the speculation that the 2 types of dermatoses may be caused by dysfunction of a common pathway. Previously, a candidate MTF locus has been mapped to 9p21 while disease gene for familial cylindromatosis, the CYLD gene located on 16q21-13 has been identified. Here, we show that mutations in the CYLD gene are also the genetic basis for three different Chinese families with MFT. Sequence analysis reveal a single nucleotide deletion, c.1462delA (P.Ile488fsX9) in exon 9, a nonsense mutation, c.2128C>T (p. Gln710X) in exon 17, and a missense mutation, c.2822A>T (p. Asp941Val) in exon 21 in each of the three families respectively. This provides direct evidence that the mutations in CYLD can cause two clinically distinct cancer syndromes.

China↗
PubMed2004

Seven novel mutations of the ADAR gene in Chinese families and sporadic patients with dyschromatosis symmetrica hereditaria (DSH).

Dyschromatosis symmetrica hereditaria (DSH) is an autosomal dominant pigmentary genodermatosis characterized by hyperpigmented and hypopigmented macules of on the extremities and caused by the mutations in the ADAR gene(also called DSRAD) encoding for RNA-specific adenosine deaminase. Here we reported clinical and molecular findings of 6 Chinese multi-generation families and 2 sporadic patients with DSH. We found that the same mutation could lead to different phenotypes even in the same family and we did not establish a clear correlation between genotypes and phenotypes. Seven novel heterozygous mutations of ADAR were identified, which were c.2433_2434delAG (p.T811fs), c.2197G>T (p.E733X), c.3286C>T (p.R1096X), c.2897G>T (p.C966F), c.2797C>T (p.Q933X), c.2375delT (p.L792fs) and c.3203-2A>G respectively. Our data add new variants to the repertoire of ADAR mutations in DSH.

Adenosine Deaminase↗
PubMed2004

Characteristics of genetic epidemiology and genetic models for vitiligo.

BACKGROUND: Vitiligo occurs with a frequency of 0.1% to 2% in various populations and is classified into several subtypes by its clinical presentation. Although genetic factors are thought to be involved in the cause of vitiligo, the genetic models for different phenotypes of vitiligo are unknown. OBJECTIVE: Our purpose was to explore potential genetic models for different phenotypes of vitiligo and analyze genetic epidemiologic characteristics of vitiligo in a Chinese population. METHODS: Information from 2247 patients and members in their families was collected using a uniform questionnaire. Patients' clinical characteristics and their family history were analyzed using software. A complex segregation analysis was conducted to propose potential genetic models for vitiligo. RESULTS: Different subtypes of vitiligo had different ages of disease onset. In relatives of patients with vitiligo, the risk of developing vitiligo increased with increasing relatedness to the patients with vitiligo. A polygenic additive model was the best model for focal vitiligo, vitiligo vulgaris, acrofacial vitiligo, and segmental vitiligo with approximately 50% heritability in each. For universal vitiligo, the best model was an environmental model. CONCLUSION: This study indicated that different phenotypes of vitiligo had different pathogeneses and genetic backgrounds. Onset of vitiligo is possibly affected by both genetic backgrounds and common environmental factors.

Adolescent↗
PubMed2004

A gene for freckles maps to chromosome 4q32-q34.

Freckles are numerous pigmented macules on the face commonly occurring in the Caucasian and Chinese population. As freckling is considered as an independent trait, no gene or locus for it has been identified to date. Here we performed genome-wide scan for linkage analysis in a multigeneration Chinese family with freckles. A maximum LOD score of 4.26 at a recombination fraction of 0 has been obtained with marker D4S1566. Haplotype analysis localized the freckles locus to a 16 Mbp region flanked by D4S2952 and D4S1607. We have thus mapped the gene for freckles to chromosome 4q32-q34. This will aid future identification of the responsible gene, which will be very useful for the understanding of the molecular mechanism of freckles.

Asian People↗
PubMed2004

Identification of the cylindromatosis tumor-suppressor gene responsible for multiple familial trichoepithelioma.

Multiple familial trichoepithelioma (MFT) is an autosomal dominant skin disease characterized by the presence of many small benign tumors with pilar differentiation predominantly on the face. The first locus has been previously mapped to chromosome 9p21, but no gene for MFT has been identified to date. To identify the disease gene in a large Chinese family, we initially performed linkage analysis with microsatellite markers from 9p21, but failed to confirm the linkage to this region. Previous publications showed MFT and familial cylindromatosis (FC) can occur within one family and in a single person. Therefore, we speculated that the cylindromatosis gene (CYLDI gene) responsible for FC may be related to the pathogenesis of MFT. In view of that, we genotyped all available individuals using 11 microsatellite markers spanning the CYLDI gene region at 16q12-q13. We identified the linkage of MFT to this region. Mutation analysis in the CYLDI gene detected a frameshift mutation, designated as c.2355-2358delCAGA. The study firstly identified the cylindromatosis gene responsible for MFT and showed that different mutations of the CYLDI gene can give rise to distinct clinical and histological expression such as FC and MFT.

Adolescent↗
PubMed2004

Identification of a locus for punctate palmoplantar keratodermas at chromosome 8q24.13-8q24.21.

Punctate palmoplantar keratodermas (PPK) is a rare autosomal dominant cutaneous disorder characterized by numerous hyperkeratotic papules that are irregularly distributed on the palms and soles. The genetic basis for this disease is unknown. We performed a genome-wide search in two Chinese families with punctate PPK to map the chromosome location of the responsible gene. We identified a locus at chromosome 8q24.13-8q24.21 with a cumulative maximum two-point LOD score of 5.41 at markers D8S1793 and D8S1774 (at recombination fraction theta=0.00). Haplotype analysis indicated that the disease gene is located within 9.20 cM region between markers D8S1804 and D8S1720. It is the first locus identified for the punctate PPK. This study provides a map location for isolation of a disease gene-causing punctate PPK.

Asian People↗