Co-inheritance of G6PD deficiency and 211 G to a variation of UGT1A1 in neonates with hyperbilirubinemia in eastern Guangdong.

Background: Glucose-6-phosphate dehydrogenase (G6PD) deficiency, which may manifest as neonatal hyperbilirubinemia, is the most prevalent erythrocytic enzyme-related disease in the world.

Objective: To investigate the association between neonatal hyperbilirubinemia and co-inheritance of G6PD deficiency and 211 G to A variation of UGT1A1 in Chaozhou city of eastern Guangdong province, the effects of G6PD deficiency and UGT1A1 gene variant on the bilirubin level were determined in neonates with hyperbilirubinemia.

Method: The activity of G6PD was assayed by an auto-bioanalyzer.

[Phenotype and Genotype Analysis in Two Pedigrees with Hereditary Coagulation Factor Ⅺ Deficiency].

Objective: To analyze the phenotype and genotype in two pedigrees with hereditary coagulation factor Ⅺ (FⅪ) deficiency, and investigate the molecular mechanisms of FⅪ deficiency.

Methods: Two patients with hereditary coagulation FⅪ deficiency were admitted to Chaozhou Central Hospital in Nov 2014 and Jan 2018. The prothrombin time (PT), activated partial thromboplastin time (APTT), FⅪ activity (FⅪ∶C) and FⅪ antigen (FⅪ∶Ag) were tested for phenotypic diagnosis.

Gene variants in four pedigrees with hereditary coagulation factor XI deficiency and one novel mutation identification.

: Coagulation factor XI (FXI) deficiency is a bleeding disorder with unpredictable severity. Patients with this condition usually suffer bleeding manifestations after trauma or surgery and are poorly correlated with plasma FXI activity (FXI:C). In the current study, we examined and identified the phenotype and genotype in four unrelated probands and their 32 relatives with hereditary FXI deficiency.

[Novel mutations p.Lys327X and p.Leu424CysfsX8 underlying congenital factor Ⅺ deficiency].

Objective: To analyze the phenotype and genetic mutations in a pedigree affected with factor Ⅺ (FⅪ) deficiency.

Methods: Activated partial thromboplastin time (APTT), FⅪ activity (FⅪ:C) and FⅪ antigen (FⅪ:Ag) were determined for the proband and his family members. All exons and exon-intron boundaries of the FⅪ gene of the proband were analyzed by direct sequencing.

Molecular Epidemiological Characterization and Health Burden of Thalassemias in the Chaoshan Region, People's Republic of China.

Thalassemia is one of the most prevalent inherited disease in southern China. However, there have been only a few epidemiological studies of thalassemia in the Chaoshan region of Guangdong Province, People's Republic of China (PRC). A total of 6231 unrelated subjects in two main geographical cities of the Chaoshan region was analyzed for thalassemia.

[Molecular epidemiology of G6PD deficiency in Chaozhou area of eastern Guangdong Province].

Objective: To determine the incidence and molecular characteristics of G6PD deficiency in Chaozhou region of eastern Guangdong Province.

Methods: G6PD enzyme activity was assayed with an auto-bioanalyzer. Reverse dot blotting (RDB) was used for detecting 6 common G6PD mutations.

High resolution melting analysis: a rapid screening and typing tool for common β-thalassemia mutation in Chinese population.

β-thalassemia is a common inherited disorder worldwide including southern China, and at least 45 distinct β-thalassemia mutations have been identified in China. High-resolution melting (HRM) assay was recently introduced as a rapid, inexpensive and effective method for genotyping. However, there was no systemic study on the diagnostic capability of HRM to identify β-thalassemia.

Molecular epidemiological characterization and health burden of thalassemia in Jiangxi Province, P. R. China.

Background: Thalassemia is the most common inherited disease in southern China. However, this disorder is usually ignored by Jiangxi provincial health system and government due to lack of epidemiological data.

Materials And Methods: A total of 9489 samples from Hakka Han and Gan-speaking Han in three geographical areas of Jiangxi Province were analyzed for both complete blood cell (CBC) count and reverse dot blot (RDB) gene chip for thalassemia.

Hemoglobinopathy: molecular epidemiological characteristics and health effects on Hakka people in the Meizhou region, southern China.

Background: Hemoglobinopathies are the most common inherited diseases in southern China. However, there have been only a few epidemiological studies of hemoglobinopathies in Guangdong province.

Materials And Methods: Peripheral blood samples were collected from 15299 "healthy" unrelated subjects of dominantly ethnic Hakka in the Meizhou region, on which hemoglobin electrophoresis and routine blood tests were performed.

Glucose-6-phosphate dehydrogenase (G6PD) gene mutations detection by improved high-resolution DNA melting assay.

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a common inherited disorder worldwide including southern China. G6PD gene mutations cause deficiency of the enzyme and a large spectrum of diseases. High-resolution DNA melting (HRM) assay was recently introduced as a rapid, inexpensive and effective method for genotyping.

Development and evaluation of a reverse dot blot assay for the simultaneous detection of common alpha and beta thalassemia in Chinese.

Thalassemia is the commonest inherited autosomal recessive disorders of hemoglobin in southern China. We developed and evaluated a reverse dot blot (RDB) assay combined with flow-through hybridization technology platform for the rapid and simultaneous identification of 5 types of α-thalassemia and 16 types of β-thalassemia common in Chinese. Reliable genotyping of wild-type and thalassemic genomic DNA samples was achieved by means of a gene chip on which allele-specific oligonucleotide probes were immobilized on a nylon membrane.

Molecular characteristics of three hemoglobin variants observed in a Chinese population: Hb Ube-1 [β98 (FG5) Val→Met], Hb Ube‑2 [α68 (E17) Asn→Asp] and Hb Ube‑4 [α116 (GH4) Glu→Ala].

In this study we report three cases of Hb Ube-1, one case of Hb Ube-2 and one case of Hb Ube-4 in mainland China. One case of Hb Ube-1 had the clinical manifestation of hemolytic anemia. Hb Ube-2 and Hb Ube-4 did not appear to be associated with clinical or hematological abnormalities.

Three cases of the hemoglobin G-Chinese variant detected in patients of southern Chinese origin.

Hemoglobin (Hb) G-Chinese [α30 (B11) Glu↷Gln], also known as Hb G-Honolulu, Hb G-Hongkong or Hb G-Singapore, was first identified in a Chinese woman in Singapore, and was subsequently observed in several Chinese families. This Hb variant results from a GAG↷CAG mutation at codon 30 of the α-globin gene. The aim of the present study was to identify the Hb G-Chinese mutation in three Cantonese individuals.

Molecular and clinical characteristics of hemoglobin Ottawa detected in a Chinese population.

Hemoglobin (Hb) Ottawa [α15 (A13) Gly→Arg], also known as Hb Siam, was first described in an 82-year-old Canadian in 1974. The same year, a second case was reported in a 28-year-old Chinese male living in Thailand. A third case was found in 1986 in a Chinese female living in the Hubei province of China.

Genital human papillomavirus screening by gene chip in Chinese women of Guangdong province.

Background: Human papillomavirus (HPV) infections are associated with cervical cancer. There were only a few reports and detailed data about epidemiological research of HPV infection in general population of China.

Aims: To determine the prevalence of genital HPV infection in Chinese women of Guangdong province.

Hepatitis B virus infection and replication in primarily cultured human fetal hepatocytes.

Aim: To investigate the infection and replication of hepatitis B virus (HBV) in primarily cultured human fetal hepatocytes (HFHs).

Methods: The human fetal hepatocytes were cultured in serum-free medium, HBV-positive serum was added into the medium to study the susceptibility of hepatocytes to HBV infection. The supernatant was collected for ELISA assay of HBsAg and HBeAg, and quantitative fluorescence PCR for HBV-DNA assay daily.