[Sequence Analysis of the UGT1A1 Gene Untranslated Region in Chinese Han Population].

Objective: To analyze the 5' and 3'-untranslated region sequences of the UGT1A1 gene in Chinese Han population and to find polymorphic variants within the untranslated region.

Methods: Genomic DNA was extracted from peripheral leukocytes in 220 healthy Han individuals. The 5' and 3'-untranslated region sequences of the UGT1A1 gene were amplified by polymerase chain reaction, and followed by DNA sequencing.

[Mutation analysis of UGT1A1 gene in patients with unconjugated hyperbilirubinemia].

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 of the UGT1A1 gene were amplified.

[Effect of BCL11A gene on transcription of γ-globin gene].

This study was aimed to explore the effect of BCL11A gene on transcription of γ-globin gene in K562 cells. B-cell lymphoma/leukemia 11A (BCL11A) gene was silenced by small interfering RNA (siRNA) expression vectors in K562 cells (human erythroblastic leukemia cell line). Gamma-globin mRNA level in K562 cells was determined by RT-PCR.

[Correlation between hemoglobin F levels and single nucleotide polymorphism at BCL11A gene rs11886868 locus in β-thalassemia patients].

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 peripheral leukocytes, fragment including rs11886868 locus in BCL11A gene was amplified by PCR, and polymorphism was determined by DNA sequencing.

[A novel mutation in β-globin gene of a patient with β-thalassemia].

This study was aimed to analyze the β-globin gene mutations in a patient with β-thalassemia minor. Genomic DNA was extracted from peripheral blood cells of the patient. The full-length DNA sequence coding for β-globin was amplified by polymerase chain reaction, and the gene mutation was determined by DNA sequencing.

[Polymorphism in BP1 binding site upstream of β-globin gene in Chinese Han population].

This study was aimed to analyze the BP1 binding site sequence upstream of β-globin gene in Chinese Han population, and to investigate polymorphism in the BP1 binding site upstream of β-globin gene, so as to provide the basis for exploration of relation between polymorphisms in the BP1 binding site and β-globin expression. Genomic DNA was extracted from peripheral leukocytes of 110 healthy individuals in Chinese Han population. Sequence of the BP1 binding site upstream of β-globin gene was amplified by polymerase chain reaction, the polymorphic variation in the BP1 binding site was determined by DNA sequencing.

[Analysis of GJB2 gene coding sequence in patients with nonsyndromic hearing loss].

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 sequence of the GJB2 gene was amplified by polymerase chain reaction, sequence variations were determined by DNA sequencing.

[Single nucleotide polymorphisms of β-globin gene in β-thalassaemia patients].

This study was aimed to analyze the β-globin gene sequence and single nucleotide polymorphisms of the β-globin gene in β-thalassaemia patients from Shenzhen area, and to explore linkage relationships between β-globin gene mutations and single nucleotide polymorphisms. Genomic DNA was extracted from peripheral leukocytes in 125 β-thalassaemia patients from Shenzhen population. β-globin gene was amplified by polymerase chain reaction, mutations and single nucleotide polymorphisms in the β-globin gene were determined by DNA sequencing.

[Different splice of the calpain 3 gene in human skeletal muscle tissue and white blood cells].

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 determined by reverse transcriptase polymerase chain reaction and DNA sequencing.

[Changes of serum creatine kinase levels in children with Duchenne muscular dystrophy].

Objective: Duchenne muscular dystrophy (DMD) usually occurs prior to 3 years old. The value of serum creatine kinase changes with clinical progression and age in patients with DMD. This study aimed to investigate the regularity in the changes of serum creatine kinase activities in children with DMD.