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
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. Source
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
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. Source