Distribution characteristics of hepatitis C virus genotypes in Xinjiang / 中华肝脏病杂志

To understand the hepatitis C virus (HCV) genotype distribution characteristics in Xinjiang region. 6462 cases with chronic HCV infection that were treated at the First Affiliated Hospital of Xinjiang Medical University from January 2013 to September 2018 were selected, and repeated testers were excluded. A total of 4773 cases with HCV genotypes were efficiently included. PCR-reverse dot hybridization method was used to retrospectively analyze the genotypes distribution. (2) test or F-test was used for intergroup comparison. < 0.05 was considered as statistically significant. Five genotypes were detected in 4 773 samples: genotype 1b 2928 cases (61.3%), genotype 2a 1241 cases (26%), and genotype 3a 375 cases (7.9%), genotype 3b 205 cases (4.3%), and genotype 6a 24 cases (0.5%). Patients were 48.14 ± 13.93 years old. Genotype 1b was mainly detected in all age groups. There were 2 965 cases of Han ethnicity and 1808 cases of 19 ethnic minorities, of which 1798 cases (60.6%) and 1130 cases (62.5%) were genotype 1b, and 235 cases (7.9%) and 345 cases (19.1%) were genotype 3, respectively. Among the ethnic minorities, Uyghur were the predominant, and genotype 6a could be detected; however, no other ethnic groups had detected genotype 6a. There were 704 Uyghur of genotype 1b (62.1%), 269 Uyghur of genotype 3 (23.7%), and 235 Hans of genotype 3 (7.9%). There were 2 413 males and 2 360 females, of which 1 418 males (58.8%), and 1 510 females (64%) were of genotype 1b, and 424 males (17.6%), and 156 females (6.6%) were of genotype 3. There was a statistically significant difference between the gender of patients with genotype 1b and non-genotype 1b ( < 0.05). There was a statistically significant difference in the detection rate of genotype 2a, 3a, 3b, 6a between Han and ethnic minority patients ( < 0.05). HCV genotypes distribution in Xinjiang region is diverse, and is mainly type 1b. An ethnic minority has higher proportion of HCV genotype 3 than that of Han ethnicity. HCV genotypes detection in Xinjiang region enriches the distribution characteristics of HCV genotypes and provides a basis for individualizing treatment for patients in China.

Mutational analysis of ATP7B gene of hepatolenticular degeneration in Xinjiang region / 中华肝脏病杂志

To understand the mutational characteristics of ATP7B gene of hepatolenticular degeneration in Xinjiang region. 24 cases were diagnosed as hepatolenticular degeneration and the exon of ATP7B gene was detected in some of their siblings and parents. A total of 45 ATP7B gene mutations (93.75%) were detected in 24 cases, of which 14 cases were homozygous mutations or compound heterozygous mutations, six cases were heterozygous mutations and four cases were no mutations. A total of 24 gene mutations and 14 SNPS were detected, including 8 new mutations: c.251C > A, c.121A > c, c.2945C > A, c.2194C > T, c.2947T > c, c.3626T > A, c.3662_3664del, c.3557G > T. The most common mutations were c.2621C > T (p.A874V) [16.7% (4/24)] and c.2333G > T (p.R778L) [12.5% ​​(3/24)]. A total of 4 cases were diagnosed as pre-symptomatic. In this study, the most common mutation in the ATP7B gene is A874V. The most common genetic mutations in Han and Uyghur patients were different. The most common mutation in Han and Uyghur patients is R778L and A874V. Exon 11 is the gene mutations hot spot for patients with hepatolenticular degeneration in Xinjiang region, and is one of the priority exons to be detected when screening patients with suspected hepatolenticular degeneration.