Shanxi Children Hospital
Shanxi Children Hospital
Wu Y.-Y.,Anhui Medical University |
Wu Y.-Y.,CAS Hefei Institutes of Physical Science |
Tang J.-P.,Hunan Children Hospital |
Liu Q.,Shanxi Children Hospital |
And 21 more authors.
Gene | Year: 2017
Background Atopic dermatitis (AD) is a chronic inflammatory skin disease. The 5q22.1 region was found to have an association with AD in our previous genome-wide association study (GWAS). Objective To identify the AD susceptibility gene in 5q22.1 and observe its expression in AD tissues. Methods Suggestive indels from the GWAS data were genotyped in 3013 AD patients and 5075 controls from the Chinese Han population with the SequenomMassArray system. Association, Bayesian and bioinformatics analyses were used to identify possible causal indels and genes in the 5q22.1 region. Immunohistochemistry (IHC) was performed to observe protein expression in the tissues. PLINK 1.07 software was used for all statistical analyses. Results The genotyping and association analysis showed that six deletions and four SNPs were associated with AD (P < 0.005). The rs11357450 (Pcombined = 7.79E-04, OR = 1.39, logBayes Factor = 1.29) deletion located in TMEM232 was identified to be the strongest variant. Analysis of the genetic model revealed that the dominant model best described rs11357450 (P = 1.96E-03, OR = 1.22; 95% CI = 1.07–1.37). IHC showed that the expression of TMEM232 decreased gradually from the granular layer to the basal layer in AD, but in normal tissues, this trend was reversed. Additionally, positive cytoplasm staining was found in lymphocytes around the blood vessels in AD. Conclusions The study indicates that TMEM232 in the 5q22.1 region is the causal gene for AD in the Chinese Han population. © 2017 The Authors
Zhang J.-J.,Peking University |
Bao X.-H.,Peking University |
Cao G.-N.,Peking University |
Jiang S.-L.,Fengtai Hospital |
And 5 more authors.
Chinese Journal of Medical Genetics | Year: 2010
Objective: To identify the parental origin of methyl-CpG-binding protein 2 (MECP2) gene mutations in Chinese patients with Rett syndrome. Methods: Single nucleotide polymorphisms (SNPs) in intron 3 of the MECP2 gene were analyzed by PCR and sequencing in 115 patients with Rett syndrome. Then sequencing of the SNP region was performed for the fathers of the patients who had at least one SNP, to determine which allele was from the father. Then allele-specific PCR was performed and the products were sequenced to see whether the allele from father or mother harbored the mutation. Results: Seventy-six of the 115 patients had at least one SNP. Three hot SNPs were found in these patients. They were: 1VS3 + 22C>G, 1VS3 + 266C>T and IVS3 + 683C>T. Among the 76 cases, 73 had a paternal origin of MECP2 mutations, and the other 3 had a maternal origin. There were multiple types of MECP2 mutation of the paternal origin, including 4 frame shift, 2 deletion and 67 point (56 C>T, 6 C>G, 2 A>G, 2 G>T and 1 A>T) mutations. The mutation types of the 3 ptients with maternal origin included 2 frame shift and 1 point (C>T) mutation. Conclusion: In Chinese RTT patients, the MECP2 mutations are mostly of paternal origin.
Hao G.-P.,Shanxi Children Hospital |
Wang X.-H.,Shanxi Children Hospital |
Zhu L.,Shanxi Children Hospital |
Chang H.,Shanxi Children Hospital |
And 2 more authors.
Journal of Leukemia and Lymphoma | Year: 2012
Objective To evaluate the clinical significance of minimal residual disease (MRD)detecion in ALL-B of children by flow cytometric (FCM). Methods 52 cases of children with ALL-B were performed bone marrow MRD by FCM analisis after induction therapy, 3 moths therapy, and 6 moths therapy. After that, MRD detection was performed every 6 months. According to disease risks, three group were categorized, standard risk (SR), imidiete risk (IR) and high risk(HR). Results After 6 months, SR groups MRD positive cases were 4/21(19 %), IR groups MRD position cases were 8/23 (35 %), HR groups MRD position cases were 5/8 (63 %). 9 cases relapsed in all 52 patients. There were significant differrence in replased rate between the positive and negtive MRD (P<0.001). Conclution The dynamic detection of MRD by FCM can be used to evaluate the therapeutic effect and prognosis of children with ALL-B. It is also useful in adjusting treatment strategy and for following up in children with ALL.