Research Article

Related GMR Articles

Mutation; TSC1 gene; TSC2 gene; Tuberous sclerosis complex

Tuberous sclerosis complex (TSC) is an autosomal dominant neurogenetic disorder characterized by hamartomas in multiple organs and is caused by a wide spectrum of mutations in 1 of 2 causative genes (TSC1 or TSC2). Here, we present mutational analyses of the TSC1 and TSC2 genes in 4 cases of TSC in Chinese Han children, including 2 familial and 2 ... more

G.X. Wang; D.W. Wang; C.Y. Yi; J.S. Qu; Y.L. Wang
FMDV; Mismatch; Mutation; Nucleotide

As there is a lack of error correction mechanisms during RNA replication, foot-and-mouth disease virus (FMDV) has a very high mismatch rate, which leads to a high mutation rate, in the range of 10-3 to 10-5 per nucleotide site per genome replication. We examined the nucleotide mismatch of FMDV during replication, based on the whole genomes of the 7 serotypes ... more

Y.B. Ma; C.X. Hao; H.Y. Chang
ABCA4; Mutation; Stargardt disease

Stargardt disease was diagnosed in 12 patients from 12 families using complete ophthalmologic examination, fundus photography, fundus autofluorescence, and spectral-domain optical coherence tomography. DNA was extracted for polymerase chain reaction (PCR) and direct DNA sequencing (ABCA4 gene). Genetic counseling and eye examination were offered to 16 additional family members. ... more

M. Oldani; S. Marchi; A. Giani; S. Cecchin; E. Rigoni; A. Persi; D. Podavini; A. Guerrini; A. Nervegna; G. Staurenghi; M. Bertelli
Congenital insensitivity to pain with anhidrosis; Mutation; NTRK1; Tyrosine kinase domain

Congenital insensitivity to pain with anhidrosis (CIPA; MIM 256800) is a rare autosomal recessive disorder characterized by absence of reaction to noxious stimuli, recurrent episodes of fever, anhidrosis, and mental retardation. It is caused by mutations in the gene coding for neurotrophic tyrosine kinase receptor type 1 (NTRK1; MIM# 191315). We screened two Chinese CIPA cases ... more

M. Li; J.Y. Liang; Z.H. Sun; H. Zhang; Z.R. Yao
Aplastic anemia; maternal inheritance; Mitochondrial DNA; Mutation

This study was primarily undertaken to test the hypothesis that mitochondrial DNA (mtDNA) mutations may be associated with aplastic anemia (AA). We analyzed mtDNA sequences from 15 patients with AA. The samples were obtained from bone marrow, and patients’ oral epithelial cells were collected for normal tissue comparison. Total DNA was amplified by PCR after extraction, and these segments ... more

X. Cui; F. Liu; J.Q. Wang; W.J. Zhang; J.Y. Wang; K. Liu; S.Y. Cui; J. Zhang; R.R. Xu
Mutation; NOD; SH2B3; Single nucleotide polymorphism

Type 1 diabetes is a chronic progressive autoimmune disease characterized by mononuclear cell infiltration, with subsequent destruction of insulin-producing β-cells. Studies have identified strong associations between type 1 diabetes and several chromosome regions, including 12q24. Association between type 1 diabetes and 12q24 arises from SNP rs3184504; rs3184504 is a nonsynonymous SNP in ... more

Y.J. Li; X.Y. Li; X.R. Guo; Y. Li; B.F. Shen; Y.C. Shi; J.Y. Zhang
DNA sequencing; Familial Mediterranean fever; Genetics; MEFV gene; Mutation

Familial Mediterranean fever is a recessive autoinflammatory disease that is frequent in Armenians, Jews, Arabs, and Turks. The MEFV gene is responsible for this disease. We looked for MEFV gene variations (polymorphism and mutations) in a population that resides in Central Anatolia, Turkey. DNA was extracted from peripheral blood leukocytes of 802 familial Mediterranean ... more

G.G. Ceylan; C. Ceylan; E. Ozturk
Charcot-Marie-Tooth; Gender; Mitofusin 2; Mutation

Charcot-Marie-Tooth (CMT) is a group of clinically and genetically heterogeneous inherited neuromuscular disorders. At present, more than 30 loci have been reported to be associated with CMT disease; point mutations in the mitofusin 2 (MFN2) gene is one of the most common causes. We studied a Chinese family with CMT disease in which the phenotype of affected individuals varied, and the ... more

Y.W. Wang; W.T. Han; M. Jiang; C.X. Lu; X.F. Li; X. Zhang; J.X. Li
meat quality; Mutation; Ryanodine receptor protein; SNP

Some genes affect meat quality in chickens. We looked for polymorphisms in the Gallus gallus α-RyR gene (homologous to RyR 1) that could be associated with PSE (pale, soft and exudative) meat. Because RyR genes are over 100,000 bp long and code for proteins with about 5000 amino acids, primers were designed to amplify a fragment of hotspot region 2, a region with a high density ... more

A.A. Droval; E. Binneck; S.R.R. Marin; F.G. Paião; A. Oba; A.L. Nepomuceno; M. Shimokomaki
CYLD; Mutation; Trichoepithelioma

Trichoepithelioma is a benign neoplasm that primarily shows follicular germinative differentiation. Classic trichoepithelioma typically presents as a skin-colored papule or nodule on the face or upper trunk; lesions have a predilection for the nose. Trichoepithelioma can be sporadic or familial and solitary or multiple. Most previously reported multiple trichoepithelioma cases are ... more

Z.L. Li; H.H. Guan; X.M. Xiao; Y. Hui; W.X. Jia; R.X. Yu; H. Chen; C.R. Li