[TUBB1 mutation in children with congenital hypothyroidism and thyroid dysgenesis in Shandong, China].

Objective: To study the types and characteristics of TUBB1 mutation in children with congenital hypothyroidism (CH) and thyroid dysgenesis (TD) in Shandong, China.

Methods: Mutations of the whole coding region of the TUBB1 gene were analyzed for 289 children with CH and TD in Shandong. Whole-genome DNA was extracted from peripheral blood leukocytes.

Decreased ALCAM expression and promoter hypermethylation is associated with preeclampsia.

Preeclampsia (PE) is a major obstetrical complication that results in maternal and fetal morbidity and mortality. Aberrant epigenetic modifications are widely involved in the pathogenesis of PE. Previously, the activated leukocyte cell adhesion molecule (ALCAM) was reported to be required for blastocyst implantation but has not been described in the context of pathological pregnancy.

Polymorphism of ERCC1 rs3212986 in Chinese Han women with preeclampsia.

Objective: To investigate the association between polymorphism of rs3212986 in ERCC1 and susceptibility to preeclampsia in the Chinese Han population.

Study Design: Samples of 642 preeclampsia patients and 877 controls were genotyped for rs3212986 using TaqMan allele discrimination assays. The genetic and allelic distributions between the groups were compared by Pearson's χ test.

[Toxoplasma gondii Infection in HIV-infected Individuals in Henan Province].

Genomic DNA was extracted from 1 038 peripheral blood samples from HIV-infected individuals in Henan Province. One-step single-tube nested PCR was performed to amplify the 529 bp repeating sequences of Toxoplasma gondii. Of the 1 038 samples （762 from males and 276 from females）, 66 showed positive PCR results, with a positive rate of 6.

[DUOX2 mutations in children with congenital hypothyroidism].

Objective: To study the features of DUOX2 mutations and genotype-phenotype relationship in children with congenital hypothyroidism (CH), in order to provide evidence for gene diagnosis and gene treatment of CH.

Methods: Blood samples were collected from 10 CH children with thyromegaly. Genomic DNA was extracted from peripheral blood leukocytes.

Functional study of one nucleotide mutation in pri-miR-125a coding region which related to recurrent pregnancy loss.

MicroRNAs (miRNAs) are short non-coding RNAs which modulate gene expression by binding to complementary segments present in the 3'UTR of the mRNAs of protein coding genes. MiRNAs play very important roles in maintaining normal human body physiology conditions, meanwhile, abnormal miRNA expressions have been found related to many human diseases spanning from psychiatric disorders to malignant cancers. Recently, emerging reports have indicated that disturbed miRNAs expression contributed to the pathogenesis of recurrent pregnancy loss (RPL).

Polymorphisms in the vitamin D receptor and risk of gout in Chinese Han male population.

Previous studies have showed that patients with gout showed lower serum 25(OH)D levels. As the specific receptor of vitamin D, VDR plays an important role in regulating immune system by combining with vitamin D. In this study, we investigated whether the functional VDR polymorphisms were associated with susceptibility to gout in Chinese Han male population.

Effect of 5-aza-2'-deoxycytidine combined with trichostatin A on RPMI-8226 cell proliferation, apoptosis and DLC-1 gene expression.

This study was aimed to investigate the effects of the DNA methylation inhibitor 5-aza-2'-deoxycytidine (5-Aza-CdR) and histone deacetylase inhibitor trichostatin A (TSA) on DLC-1 gene transcription regulation and molecular biological behaviours in the human multiple myeloma RPMI-8226 cells. The cells were treated respectively with 5-Aza-CdR and TSA alone, or the both combination; the cell proliferation and apoptosis, DLC-1 expression, the protein expression of Ras homolog family member A (RhoA) and Ras-related C3 botulinum toxin substrate 1 (Rac1) were examined by CCK-8 method, RT-PCR and ELISA, respectively. The results showed that the 5-Aza-CdR and TSA had cell growth inhibitory and apoptosis-inducing effects in dose-dependent manner (P < 0.

[Family-based association study of a variable number of tandem repeat polymorphism of DAT1 gene with Tourette syndrome in a Chinese Han population].

Objective: To assess the association of a 40 bp variable number of tandem repeat (VNTR) polymorphism within 3 untranslated region of dopamine transporter gene (DAT1) with Tourette syndrome (TS) in a Chinese Han population.

Methods: A total of 160 TS patients and their parents were recruited. The VNTR polymorphism was detected with polymerase chain reaction-VNTR analysis, and its association with TS and its subtypes were assessed through a family-based association study comprising transmission disequilibrium test (TDT) and haplotype relative risk (HRR) analysis.

[DUOX2 gene mutation in patients with congenital goiter with hypothyroidism].

Objective: To identify DUOX2 gene mutation in patients with congenital goiter with hypothyroidism.

Method: Five patients who had transit congenital hypothyroidism with goiter were enrolled. The exons of DUOX2 gene were amplified and sequenced.

Two common SNPs in pri-miR-125a alter the mature miRNA expression and associate with recurrent pregnancy loss in a Han-Chinese population.

Although there are plenty of evidence that single-nucleotide polymorphisms (SNPs) that fall within coding sequences of genes are involved in recurrent pregnancy loss (RPL), it is still unknown whether the polymorphisms in microRNAs (miRNAs) are related with RPL. In this study, we established this kind of association by confirming significant differences in genotype distribution of rs41275794 (P= 0.0005) and rs12976445 (P= 0.

[Correlation of IL-4 and IL-13 gene polymorphisms with asthma and total serum IgE levels].

Objective: To investigate the correlation between the single nucleotide polymorphisms (SNP) of +33C/T in the promoter region of IL-4 gene and +1923C/T in intron-3 region of IL-13 gene and the susceptibility of asthma, and to study the impact of these polymorphisms upon total serum IgE levels.

Methods: The 2 polymorphisms were determined by polymerase chain reaction and restriction fragment length polymorphism (PCR-RFLP), in 150 asthmatic subjects (asthma group) and 160 healthy controls (healthy control group) of the Han nationality in Shandong province enrolled from December 2003 to June 2007. The total serum IgE levels were determined by ELISA.

Clinical and genetic study of a novel mutation in the REEP1 gene.

Objective: To examine the gene mutation associated with clinical phenotype from a Chinese kindred with autosomal dominant hereditary spastic paraplegia (ADHSP).

Method: To perform linkage analysis and mutation detection. For two affected individual of the family, clinical analysis, electrophysiological examination, and MRI of brain and spinal cord were also performed.

A novel mutation in EXT2 gene in a Chinese family with hereditary multiple exostoses.

Hereditary multiple exostoses (HME) is an autosomal-dominant disorder characterized by the presence of bony outgrowths on the long bones. In this report, we describe a Chinese family with HME. Linkage analysis and mutation detection were performed.

A novel mutation in the EXT2 gene identified in two unrelated Chinese families with hereditary multiple exostoses.

Hereditary multiple exostoses (HME) is an autosomal dominant disorder characterized by benign bone tumors. In this report, we describe two unrelated Chinese families with HME. Linkage analysis and mutation detection was performed.

[EXT1 and EXT2 mutation identified by denaturing high performance liquid chromatograph in three families with hereditary multiple exostoses].

Objective: To develop a new denaturing high performance liquid chromatograph (DHPLC)-based method to screen patients with EXT gene mutation and to study the gene mutation in three families with multiple exostoses.

Methods: All the exons of EXT gene, including the intro-exon boundaries, were amplified by PCR. Linkage analysis and DHPLC screening were carried out to identify the mutations.

Clinical and genetic study of SPG6 mutation in a Chinese family with hereditary spastic paraplegia.

Mutations in the NIPA1 gene cause autosomal dominant hereditary spastic paraplegia (ADHSP). To date, little is known about the relationship between genotype-phenotype correlation. In order to examine the gene mutation associated with the genotype-phenotype of Chinese kindred with ADHSP, linkage analysis and mutation detection were performed.