A de novo mutation in the PORCN gene in a newborn with Goltz syndrome / 中华皮肤科杂志

Objective:To report a newborn with Goltz syndrome and a de novo mutation in the PORCN gene. Methods:Clinical data collected from a newborn with Goltz syndrome were retrospectively analyzed. Peripheral venous blood samples were obtained from the newborn and her parents, genomic DNA was extracted, whole-exome sequencing was performed to screen disease-causing genes in the patient, and Sanger sequencing was conducted to verify the mutant genes.Results:The 7-hour-old female newborn presented with scalp defects, multiple epidermal defects on the face and inner side of both knee joints, deformity of the left auricle, syndactyly of the middle and ring fingers of the right hand as well as the great and second toes of the right foot, and lobster-claw deformity of the left foot. Genetic testing showed that a fragment TCCTTCCA was inserted at position 514-521 in exon 4 of the PORCN gene of the patient (c.514_521dupTCCTTCCA) , resulting in the substitution of serine by proline at amino acid position 175 (p.S175Pfs*14) , followed by translation termination at the 14th codon. This heterozygous mutation was not found in her parents. The patient was diagnosed with Goltz syndrome. Conclusions:There are various phenotypes of Goltz syndrome, and a confirmed diagnosis of Goltz syndrome can be made based on PORCN gene mutations and clinical manifestations. The heterozygous mutation c.514_521dupTCCTTCCA is a novel mutation.

Association of SNP276 polymorphism in adiponectin gene with essential hypertension in population of Shanxi region with impaired glucose regulation / 中国医师杂志

Objective@#To study the association of single nucleotide polymorphism (SNP)276 in adiponectin gene with essential hypertension in population with impaired glucose regulation in Han people of Shanxi region.@*Methods@#The study population consisted of 216 Chinese Hans residents with impaired glucose regulation (IGR) in Shanxi province. Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) was applied to test the adiponectin SNP276G/T polymorphism.@*Results@#The distributions of genotypes and alleles of SNP276 both displayed significant difference between the IGR complicating norm tension group and the hypertension group (P=0.025, P=0.007). Compared with the TT genotype, the SNP276 non-TT (GT+ GG) genotype was associated with increased risk of complicating with hypertension (OR=3.346, 95% CI: 1.115-8.986, P=0.037), while after age- , sex- and BMI-adjusted, there was no significant difference between the 2 groups (P=0.349).@*Conclusions@#SNP276 in adipose most abundant gene transcript 1 (APM1) was associated with the susceptibility to be complicating essential hypertension in population with impaired glucose regulation in Han people of Shanxi region.

Association of SNP276 polymorphism in adiponectin gene with essential hypertension in population of Shanxi region with impaired glucose regulation / 中国医师杂志

Objective To study the association of single nucleotide polymorphism (SNP)276 in adiponectin gene with essential hypertension in population with impaired glucose regulation in Han people of Shanxi region.Methods The study population consisted of 216 Chinese Hans residents with impaired glucose regulation (IGR) in Shanxi province.Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) was applied to test the adiponectin SNP276G/T polymorphism.Results The distributions of genotypes and alleles of SNP276 both displayed significant difference between the IGR complicating norm tension group and the hypertension group (P =0.025,P =0.007).Compared with the TT genotype,the SNP276 non-TT (GT + GG) genotype was associated with increased risk of complicating with hypertension (OR =3.346,95％ CI:1.115-8.986,P =0.037),while after age-,sex-and BMI-adjusted,there was no significant difference between the 2 groups (P =0.349).Conclusions SNP276 in adipose most abundant gene transcript 1 (APM1) was associated with the susceptibility to be complicating essential hypertension in population with impaired glucose regulation in Han people of Shanxi region.

Effect of glucagon-like peptide-1 agonist on expression of glucose transporter 4 in the skeletal muscle of rats with impaired glucose tolerance / 中华内分泌外科杂志

Objective To investigate the effect of glucagon-like peptide-1 agonist (exendin-4) on expression of glucose transporter 4 (GLUT4) in the skeletal muscle of rats with impaired glucose tolerance (IGT).Methodis 54 Wistar rats were randomly assigned into normal glucose tolerance group (NGT group,n =18) and impaired glucose tolerance group(IGT group,n =36).The rats in NGT group were fed with routine diet and the rats in IGT group were fed with high-sugar high-fat diet.At the 12th week,IGT models were tested successful.Then,half of the rats were allocated to intervention group (Ex group) and the rest were set as IGT control group.The rats in Ex group were subject to exendin-4 subcutaneous injection (5 μg/kg,twice daily).Each rat in NGT group and IGT control group was given the same volume of saline as injection.FBG and 2 h BG were measured before intervention and after 4 weeks.The expression of GLUT4 mRNA and GLUT4 in the skeletal muscle were respectively measured by real time quantitative polymerase chain reaction and immunohistochemistry.Inter-group comparison was conducted using analysis of variance (ANOVA) and least square deviation-test (LSD-t).Results Before intervention,compared with NGT-group,the 2 h BG in IGT control group and Ex group were higher,the GLUT4 mRNA of skeletal muscle in IGT control group and Ex group were lower (respectively P ＜ 0.05).The skeletal muscle cells in IGT control group and Ex group were less colored while the skeletal muscle cells in NGT group were colored extensively,and more colored granules.After 4 weeks of exendin-4 intervention,compared with IGT control group and Ex group of non-intervention,the 2 h BG level in Ex group was lower and the expression level of GLUT4 mRNA of skeletal muscle was higher (respectively P ＜ 0.05).After intervened with exendin-4 for 4 weeks,the GLU protein mainly expressed in cytoplasma of skeletal muscle cells.Its expression was higher in Ex group than in IGT group and in Ex group before intervention.Conclusion Exendin-4 may up-regulate the expression of GLUT4,increase glucose intake of the skeletal muscle,and reduce postprandial blood sugar.

Construction of eukaryotic cell expression vectors pIRES2-EGFP-SP-B-C/T 1580 and evaluation of their expressions in 293T cells / 中国医师杂志

Objective To construct two kinds of eukaryotic ccll expression vcctors pIRES2-EGFP-SP-B-C/T 1580 and evaluate their expressions in 293T cells,for the further study of relationship between polymorphism of surfactant protein B (SP-B) gene and bronchopulmonary dysplasia (BPD).Methods The eukaryotic pIRES2-EGFP-SP-B-C/T 1580 expression vectors were constructed by gene recombination,and identified by gene sequencing.The recombinant expression vectors were transfected into 293T cells by lipofectamine2000.The expression of green fluorescence protein in 293T cells was observed by fluorescence microscopy.The mRNAs and proteins of SP-B-C/T 1580 were tested and identified by reverse transcriptionpolymerase chain reaction-restriction fragment length polymorphism(RT-PCR-RFLP) and western blot.Results Two recombinant plasmids contained the complete cDNA of SP-B with the same sequence as in gene bank.The base of SP-B 1580 gene of pIRES2-EGFP-SP-B-C 1580 was C,that of pIRES2-EGFP-SP-B-T 1580 was T.After being transfected into 293T cells,highly efficient expression of SP-B-C/T 1580 gene was detected at mRNA and protein levels.Conclusions The pIRES2-EGFP-SP-B-C/T 1580 eukaryotic cell expression vectors were successfully constructed.

Gene polymorphism in intron 4 of surfactant protein-B in bronchopulmonary dysplasia infants / 中华围产医学杂志

ObjectiveTo investigate the change of gene polymorphorism of surfactant protein-B (SP-B) intron 4 in infants with bronchopulmonary dysplasia (BPD).MethodsForty-five infants with BPD (BPD group) and ninety-nine infants without lung diseases (control group) who admitted into Tongji Hospital,Tongji Medical College,Huazhong University of Science and Technology from July 2008 to July 2011 were selected into this study.Genotyping for fragment length polymorphism of SP-B intron 4 was performed by polymerase chain reaction (PCR),agarose gel electrophoresis,cloning and sequencing methods in both groups.Differences of allele frequencies (invariant allele and variant allele) and genotype frequencies (invariant genotype and variant genotype) between BPD group and control group were analyzed.The differences of gestational age and birth weight between the two groups were compared with Independent-Samples t test.The gender composition and differences of allele or genotype frequencies between the two groups were compared with Chi-square test.Results Invariant allele frequencies in BPD group and control group were 83.3％ (75/90) and 92.0％ (182/198),and variant allele frequencies were 16.7％ (15/90,including eight insertion alleles and seven deletion alleles) and 8.1％ (16/198,including eight insertion alleles and eight deletion alleles).There were significant differences between the two groups (x2 =4.75,P =0.029).In BPD group,there were 32 cases (71.1 ％,32/45) invariant genotypes and 13 cases (28.9 ％,13/45,including seven cases insertions and six cases deletions) variant genotypes; in the control group,there were 85 cases invariant genotypes (85.8％,85/99) and 14 cases (14.1％,14/99,six insertions and eight deletions) variant genotypes.Significant difference was found between the two groups (x2=4.42,P＜0.036). ConclusionsVariations of SP-B intron 4 were more in BPD infants,and the variation of SP-B intron 4 might be associated with BPD.