Shunchang C Sun

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OBJECTIVE To investigate the D4Z4 repeats on chromosome 4q35 in normal individuals in Shanghai and analysis the polymorphism of the D4Z4 locus. METHODS The length of D4Z4 repeats on chromosome 4q35 in 191 normal individuals in Shanghai was determined by pulsed-field gel electrophoresis and Southern blotting after double digestion with Eco RI and Bln I.(More)
BACKGROUND Smoking is a risk factor for many human diseases. DNA methylation has been related to smoking, but genome-wide methylation data for smoking in Chinese populations is limited. OBJECTIVES We aimed to investigate epigenome-wide methylation in relation to smoking in a Chinese population. METHODS We measured the methylation levels at > 485,000 CpG(More)
OBJECTIVE To identify the underlying androgen receptor gene mutation in a Chinese patient with typical symptoms of complete androgen insensitivity syndrome. STUDY DESIGN A Chinese female phenotype with 46, XY karyotype was diagnosed because of primary amenorrhea. Mutations were determined by polymerase chain reaction followed by DNA sequencing. RESULTS(More)
This study was aimed to analyze hemoglobin F (HbF) level and single nucleotide polymorphisms at rs11886868 locus of BCL11A gene in β-thalassemia patients, and to explore correlation between them. 89 mild β-thalassemia patients with known mutations were registered, and HbF levels were determined by capillary electrophoresis. Genomic DNA was extracted from(More)
RATIONALE Acute coronary syndrome (ACS) is a leading cause of death worldwide. Immune functions play a vital role in ACS development; however, whether epigenetic modulation contributes to the regulation of blood immune cells in this disease has not been investigated. OBJECTIVE We conducted an epigenome-wide analysis with circulating immune cells to(More)
OBJECTIVE To analyze the coding sequence of GJB2 gene in six pedigrees with nonsyndromic hearing loss in order to find deafness-causing mutations in the GJB2 gene, and to explore the inherent pattern of deafness-causing mutations in the GJB2 gene. METHODS Genomic DNA was extracted from peripheral blood for the probands and their family members. Coding(More)
Distal trisomy of 10q is a rare chromosomal abnormality. Distal deletions of the terminal long arm of chromosome 15 have rarely been described. We report on a male infant with low birth weight and microcephaly, a flat face with a spacious forehead, low-set ears, blepharophimosis, microphthalmia, a small nose, and a depressed nasal bridge. Microarray(More)
OBJECTIVE To analyze potential mutations of uridine diphosphate glucuronosyltransferase 1A1 (UGT1A1) gene in patients with unconjugated hyperbilirubinemia, and to explore the correlation between the mutations and total serum bilirubin levels. METHODS Genomic DNA was extracted from peripheral blood samples of patients. Coding sequence and promoter region(More)
Coronary heart disease (CHD) is a leading cause of morbidity and mortality around the world and has both genetic and environmental precipitants. Genetic factors are significant in determining the level of risk factors in individuals. Variants in ZFHX3 gene are associated with atrial fibrillation in individuals of European ancestry. The aim of this study was(More)
OBJECTIVE To investigate the splice variants of the calpain 3 gene existing in human skeletal muscle tissue and white blood cells, and to explore the feasibility of gene diagnosis using CAPN3 mRNA extracted from peripheral leukocytes. METHODS Total RNA was extracted from peripheral blood and skeletal muscle tissue in healthy individuals. CAPN3 cDNAs were(More)