Identification of novel variations of oculocutaneous albinism type 2 with Prader-Willi syndrome/Angelman syndrome in two Chinese families.

Oculocutaneous albinism (OCA) is an autosomal recessive disorder caused by a variety of genomic variations. Our aim is to identify the molecular basis of OCA in two families and lay the foundation for prenatal diagnosis. Four types of OCA-causing mutations in the TYR, , TYRP1, or SLC45A2 genes were screened.

The protective effect of obeticholic acid on lipopolysaccharide-induced disorder of maternal bile acid metabolism in pregnant mice.

The disorder of bile acid metabolism is a common feature during pregnancy, which leads to adverse birth outcomes and maternal damage effects. However, the cause and therapy about the disorder of bile acid metabolism are still poor. Microbial infection often occurs in pregnant women, which can induce the disorder of bile acid metabolism in adult mice.

Analysis of cancer incidence in Zhejiang cancer registry in China during 2000 to 2009.

Objective: The Zhejiang Provincial Cancer Prevention and Control Office collected cancer registration data during 2000 to 2009 from 6 cancer registries in Zhejiang province of China in order to analyze the cancer incidence.

Methods: Descriptive analysis included cancer incidence stratified by sex, age and cancer site group. The proportions and cumulative rates of 10 common cancers in different groups were also calculated.

A novel Norrie disease pseudoglioma gene mutation, c.-1_2delAAT, responsible for Norrie disease in a Chinese family.

Aim: To investigate the genetic findings and phenotypic characteristics of a Chinese family with Norrie disease (ND).

Methods: Molecular genetic analysis and clinical examinations were performed on a Chinese family with ND. Mutations in the Norrie disease pseudoglioma (NDP) gene were detected by direct sequencing.

[FⅨ gene all exons sequencing technology in hemophilia B gene carriers detection and the application of prenatal gene diagnosis].

Objective: To establish a feasible protocol to provide genetic diagnosis and prenatal diagnosis in Chinese hemophilia patients and their relatives by direct exon sequencing.

Methods: In our study, genetic diagnosis was performed on 5 unrelated families with informed consent, which included 3 pregnant women who asked for prenatal diagnosis. Umbilical cord blood was obtained from 2 fetuses and amniotic fluid from another fetus.

[Identification of a novel pathogenic mutation in MATP gene with oculocutaneous albinism type IV from a consanguineous marriage family].

Objective: To clarify the pathogenicity-related genes and its mutations in an oculocutaneous albinism (OCA) patient from a consanguineous marriage family.

Methods: Polymerase chain reaction (PCR) and automatic DNA sequencing methods, chromosome walking by PCR amplification techniques (PCR-Walking), multiplex PCR in a single PCR tube with 3 primers bridging the breakpoint (Gap-PCR) and bioinformatic analysis were employed for screening the mutations and identifying the novel mutation in the patient and his family.

Results: A pathogenic deletion of 6365 bp was found in MATP gene with a range of c.

[Rapid prenatal genetic diagnosis of a fetus with a high risk for Morquio A syndrome].

Objective: To provide rapid and accurate prenatal genetic diagnosis for a fetus with high risk of Morquio A syndrome.

Methods: Based on ascertained etiology of the proband and genotypes of the parents, particular mutations of the GALNS gene were screened at 10th gestational week with amplification refractory mutation system (ARMS), denaturing high performance liquid chromatography (DHPLC), and direct DNA sequencing.

Results: DHPLC screening has identified abnormal double peaks in the PCR products of exons 1 and 10, whilst only a single peak was detected in normal controls.

G6PD genotype and its associated enzymatic activity in a Chinese population.

Knowledge of the G6PD genotype and its associated enzyme activity is significant for population genetics, diagnosis of disease, and management of patients. We tested 2,872 unrelated subjects from a Hakka population in China for G6PD activity by the WHO standard method and for genotype by DHPLC and DNA sequencing. Among female heterozygotes, 78.

Oculocutaneous albinism type 3 (OCA3): analysis of two novel mutations in TYRP1 gene in two Chinese patients.

Oculocutaneous albinism (OCA) is a genetic disease characterized by the reduction or deficiency of melanin in eyes, skin, and hair. OCA exhibits genetic heterogeneity. Presently, there are four types of OCA named as OCA1, OCA2, OCA3, and OCA4.

[Prenatal diagnosis of oculocutaneous albinism type IV and discovery of a novel mutation].

Objective: To provide guidance for clinical genetic counseling and prenatal diagnosis of oculocutaneous albinism (OCA) in China.

Methods: PCR and automatic DNA sequencing were applied to obtain the genotypes of the patients and their parents in three Chinese albinism families. Prenatal gene diagnoses were performed at early pregnancy by chorionic villus sampling (CVS) or by amniocentesis at mid-pregnancy.

[Improvement of I-PCR and its application in gene diagnosis of hemophilia A].

Objective: To improve inversion-polymerase chain reaction (I-PCR) in detection of factor VIII (FVIII) intron 22 inversion for gene diagnosis and prenatal diagnosis of hemophilia A (HA).

Methods: The modified I-PCR was applied to detect FVIII intron 22 inversion in 8 families with HA. The prenatal diagnosis was performed for 2 pregnant women in the families.

[Aerobic microbial degradation of polybrominated diphenyl ethers].

The biodegradation of 4, 4'-dibromodipheny ether (BDE15) and decabromodiphenyl ether (BDE209) by white rot fungi under aerobic conditions was studied. Effects of non-ionic surfactant Tween 80 and beta-cyclodextrin as solubilizers on the apparent solubilities and biodegradation rates of BDE15 and BDE209 were also evaluated. The results showed that both BDE15 and BDE209 were efficiently degraded by white rot fungi.

[All pedicle screws technique applied to the treatment of idiopathic scoliosis].

Objective: To Analyze the therapeutic efficacy of all pedicle screws technique applied to the treatment of idiopathic scoliosis and evaluate its safety.

Methods: From June 2002 to October 2005, 56 patients with idiopathic scoliosis were treated with all pedicle screws technique, including 11 males and 45 females, ranging in age from 8 to 22 years. According to Lenke classification, 29 patients were Type 1, 6 patients were Type 2, 8 patients were Type 3, 2 patients were Type 4, 8 patients were Type 5, and 3 patients were Type 6.

[Analysis of complications in scoliosis surgery].

Objective: To analyze the complications occurred in scoliosis surgery and evaluate its prevention strategy.

Methods: From June 2002 to May 2007, 86 cases of idiopathic scoliosis were treated. There were 21 male and 65 female with an average age of 17.

Biomechanical comparison of cervical transfacet pedicle screws versus pedicle screws.

Background: Transfacet pedicle screws provide another alternative for standard pedicle screw placement for plate fixation in the lumbar spine. However, few studies looking at transfacet pedicle screw fixation in the cervical spine are available. Therefore, cervical transfacet pedicle screw fixation and standard pedicle screw fixation techniques were biomechanically compared in this study.

[Prenatal diagnosis of oculocutaneous albinism type II and discovery of two novel mutations].

Objective: To investigate the genotype of oculocutaneous albinism type II (OCA2) and perform prenatal gene diagnosis for OCA2.

Methods: Peripheral blood samples were collected from a 9-year-old girl with OCA and her parents, the mother being pregnant. PCR, automatic sequence analysis and denaturing high performance liquid chromatography (DHPLC) were used to analyze the TYR gene and P gene so as to screen the OCA genes.

Prenatal molecular diagnosis of Duchenne and Becker muscular dystrophy.

Objective: Duchenne and Becker muscular dystrophy (DMD/BMD) is an X-linked lethal recessive disease caused by mutations in the dystrophy gene. There is no efficient treatment for this serious and disabling disease. We established a combination method to detect carriers and perform prenatal diagnosis.

[Complex mutations of 1311 C-->T in exon 11 and 93 T-->C in intron 11 in G6PD gene].

Objective: To investigate the relationship between complex 1311 mutation of C-->T in exon 11 and 93 T-->C in intron 11 of G6PD gene and the G6PD deficiency.

Methods: Using NBT paper strip method to screen and quantitative NBT method to confirm G6PD deficiency. PCR-SSCP technique was used to find the abnormal exon 11 and the amplification refractory mutation system (ARMS) to identify 1311 mutation, and DNA sequencing to identify the complex mutation at 1311 in exon 11 and 93 in intron 11.

[Identification of G6PD gene variants from Hakka population in Guangdong province].

Objective: Studying on G6PD polymorphism from Hakka population in Guangdong province.

Methods: Identifying the variants of G6PD gene and determining the frequencies respectively with the use of amplified refractory mutation system(ARMS), polymerase chain reaction-single strand conformation polymorphism(PCR-SSCP) and ABI 3100 DNA sequencing technologies.

Results: Mutations of G6PD gene in cDNA 1388 (G-->A), 1376 (G-->T), 95 (A-->G), 392 (G-->T), 1024 (C-->T), 1311 (C-->T) have been found.