OBJECTIVEUsing quantitative genetic analysis of twin study design to explore the impact of genetic and environmental factors on the prosocial behaviors of children.

METHODSOne hundred and forty-seven twin pairs from Chengdu area aged 6-16 were studied using parental information of Strengths and Difficulties Questionnaire (SDQ). SPSS13.0 and Mx software were used to analyze data, including nonparametric test, Pearson correlation, genetic analyses, etc.

RESULTS(1) Female children score higher than males on their prosocial behavior (Ps< 0.05), except less than 11 age group; (2) Shared environmental factors were the most important for children's prosocial behaviors(C=0.48,95%CI:0.09-0.73),then the genetic factors (A=0.27,95%CI:0-0.66) and the unshared environmental factors(E=0.25,95%CI:0.18-0.35); (3)Female and those who scored higher on their fact/ideal family adaptability and cohesion scored higher in their prosocial behaviors (r:0.17-0.29). On the contrary, those who had extreme conditions during pregnancy/ perinatal period or whose caretaker had discordant opinions on parenting scored lower (r: -0.16 to 0.28).

CONCLUSIONChildren's prosocial behaviors were influenced by genetic and environmental factors including family function and parenting environment, and genetic impact differs in different age and sex.

Adolescent ; Behavior ; Child ; Female ; Humans ; Male ; Parenting ; Sex Factors ; Social Adjustment ; Social Behavior ; Surveys and Questionnaires ; Twins ; genetics ; psychology

OBJECTIVETo identify the type of a pedigree with spinocerebellar ataxia, and carry out asymptomatic carrier detection and prenatal diagnosis.

METHODSThe blood samples of two patients in the spinocerebellar ataxia pedigree were collected. Based on the clinical characteristics of the pedigree and the disease incidence in China, the regions containing the CAG repeat of the SCA1, SCA2 and SCA3/MJD genes were amplified by polymerase chain reaction (PCR). The numbers of CAG repeats in the normal and abnormal allele fragments were identified by using agarose gel electrophoresis and DNA sequencing. We further carried out tests on the children of the patients and fetus to identify the presence of the abnormal allele.

RESULTSThe numbers of CAG repeat in the SCA1 and SCA2 genes were in the normal range. The CAG repeat number in one allele of SCA3/MJD gene was in the normal range, while that in the other allele was in the abnormal range. One of the children of the patients and the fetus carried the abnormal allele.

CONCLUSIONIt was confirmed that the pedigree was SCA3/MJD by gene diagnosis. One of the children of the patients was asymptomatic carrier and the fetus also carried the abnormal allele.

Ataxin-3 ; Ataxins ; Female ; Genetic Predisposition to Disease ; Humans ; Male ; Middle Aged ; Nerve Tissue Proteins ; genetics ; Nuclear Proteins ; genetics ; Pedigree ; Polymerase Chain Reaction ; Pregnancy ; Prenatal Diagnosis ; methods ; Repressor Proteins ; genetics ; Spinocerebellar Ataxias ; genetics

OBJECTIVETo explore the association between single nucleotide polymorphisms (SNPs) of KLK1 gene and cerebral hemorrhage in Changsha Han Chinese.

METHODSTwo hundred and seventy-three cerebral hemorrhage (CH) patients and 140 healthy controls were collected. The SNPs of rs5516 and rs5517 loci of KLK1 gene were analyzed by SNaPshot methods and direct sequencing.

RESULTS(1)Genotype and allele frequencies in rs5516 locus had no difference between the CH patients and controls (P> 0.05). However, the A allele frequency of the rs5517 locus in CH patients was higher than that in the control group (0.419, 0.321 respectively, P< 0.05). (2)In the control group,the levels of diastolic blood pressure (DBP) of the GA and AA genotype carriers of the rs5517 locus were significantly higher than those of the GG genotype (P< 0.05), while the levels of blood pressure were not significantly different among different genotypes of the rs5516 polymorphism in both CH patients and the control group(P> 0.05).

CONCLUSIONAuthor's preliminary results suggested that the rs5517 polymorphism was associated with cerebral hemorrhage, while the rs5516 polymorphism was not in Changsha Han Chinese.

Adult ; Aged ; Asian Continental Ancestry Group ; genetics ; Cerebral Hemorrhage ; genetics ; Female ; Genetic Predisposition to Disease ; genetics ; Genotype ; Humans ; Male ; Middle Aged ; Polymerase Chain Reaction ; Polymorphism, Single Nucleotide ; genetics ; Tissue Kallikreins ; genetics

OBJECTIVETo identify the single nucleotide polymorphisms (SNPs) of the alpha2-Heremans-Schmid glycoprotein (AHSG) gene and assess their association with the AHSG serum level.

METHODSThe SNPs of the AHSG gene were identified from 30 unrelated Han individuals from Guangzhou area by resequencing. Linkage disequilibrium(LD) was performed to observe the linkage disequilibrium pattern. Then tagSNPs were genotyped in 192 Han individuals from Beijing and 424 Han individuals from Guangzhou area. Finally, luciferase reporter gene assay was performed to determine whether the SNPs affected the promoter activity. Serum AHSG concentrations were measured in the 192 subjects from Beijing using ELISA.

RESULTSEight SNPs were detected in total. The linkage disequilibrium profile in the Guangzhou Han population was different from that in the Beijing Han population. However, the allele and genotype frequencies of tagSNPs between the two Han populations were not significantly different. The reporter gene assay showed that the -799A allele had significantly higher promoter activity than the -799T allele. Multiple regression analysis revealed that only the rs2248690 SNP was an independent contributor to serum AHAG concentration.

CONCLUSIONThe rs2248690 SNP in the promoter region of the AHSG gene might affect the AHSG gene transcription.

Blood Proteins ; genetics ; metabolism ; Enzyme-Linked Immunosorbent Assay ; Genotype ; Linkage Disequilibrium ; Polymorphism, Single Nucleotide ; genetics ; Serum ; chemistry ; alpha-2-HS-Glycoprotein

OBJECTIVETo study the association between the single nucleotide polymorphisms (SNPs) in the high-temperature requirement A-1 (HTRA1) gene and rheumatoid arthritis (RA) in Chinese Han population.

METHODSFive SNPs in the HTRA1 gene (rs2014307, rs2248799, rs2300433, rs714816 and rs2268356) were genotyped by ABI Snapshot method in Han Chinese cohort composed of 344 patients with RA and 288 healthy controls. The serum rheumatoid factor (RF) and C-reactive protein (CRP) of the patients were determined by endpoint nephelometry method.

RESULTSGenotypes of all the five SNPs in the HTRA1 gene were not significantly different between the RA patients and controls (P> 0.05). Haplotypes generated by these five SNPs did not show significantly difference between the two groups either (P> 0.05). Serum RF levels in the RA patients had no significant difference among the genotypes for four SNPs (rs2014307, rs2248799, rs714816, and rs2268356) in the HTRA1 gene, while RF levels in the RA patients with genotypes AA+AG of the rs2300433 locus were significantly higher than that in genotype GG carriers (P< 0.05). Serum CRP levels in the RA patients had no significant difference among the genotypes for all the five SNPs.

CONCLUSIONAuthor's results suggested that although the five SNPs in the HTRA1 gene were not associated with RA in Chinese Han population, RF levels in the RA patients with genotypes AA and AG in the rs2300433 locus were significantly higher than the GG carriers. The HTRA1 role in RF regulation needs to be further investigated.

Aged ; Arthritis, Rheumatoid ; genetics ; Female ; Genetic Predisposition to Disease ; genetics ; Genotype ; Haplotypes ; High-Temperature Requirement A Serine Peptidase 1 ; Humans ; Male ; Middle Aged ; Polymerase Chain Reaction ; Polymorphism, Single Nucleotide ; genetics ; Serine Endopeptidases ; genetics

OBJECTIVETo investigate the correlation of glucosylceramide synthase (GCS) gene and multidrug resistance 1 (MDR1) gene in inducing multidrug resistance in human multidrug-resistant K562/A02 cell line, and search for a novel strategy for reversing multidrug resistance of leukemia cells.

METHODSThe expression levels of GCS and MDR1 mRNA in K562 and K562/A02 cells were assayed by RT-PCR. siRNAs targeting the GCS and MDR1 gene were transfected into K562/A02 cells with liposome, respectively. The differential expression of GCS and MDR1 mRNAs, as well as their correlation, were detected by RT-PCR and real time quantitative-PCR(QPCR).

RESULTSThe expression level of GCS and MDR1 mRNA was dramatically lower in drug-sensitive K562 cells compared with the K562/A02 cells. The GCS mRNA was inhibited by 73%(59%-82%) and MDR1 mRNA expression was down regulated by 67% (38%-82%) in K562/A02 cells after being transfected with GCS siRNA. The expression level of MDR1 mRNA was inhibited by 81%(63%-91%) and GCS mRNA expression had no apparent change in K562/A02 cells treated with MDR1 small interference RNA(siRNA).

CONCLUSIONPositive correlation was detected between the expression of GCS and MDR1 mRNA in K562/A02 cells and MDR1 mRNA expression was down regulated after silencing the GCS gene expression.

ATP-Binding Cassette, Sub-Family B, Member 1 ; genetics ; Cell Line, Tumor ; Drug Resistance, Multiple ; genetics ; Drug Resistance, Neoplasm ; genetics ; Glucosyltransferases ; genetics ; Humans ; RNA, Messenger ; genetics ; RNA, Small Interfering ; genetics ; physiology ; Reverse Transcriptase Polymerase Chain Reaction

OBJECTIVETo investigate the relationship between the partial deletions in the azzospermia factor(AZFc) region of Y chromosome and male infertility.

METHODSMultiplex PCR technology was performed to screen the partial deletions in the AZFc region in 158 azoospermia, 160 severe oligozoospermia and 135 oligozoospermia patients and 236 men with normal spermatogenesis.For samples with gr/gr, b2/b3 recombinogenic deletions, author applied RFLP method to identify which DAZ gene doublet deletion was involved.

RESULTSThe gr/gr and b2/b3 were two types of common deletions detected. There were significant differences in the b2/b3 deletion in patients with oligozoospermia and severe oligozoospermia compared to the controls (both P< 0.05). However, there was no difference for the gr/gr deletion between the patients and controls.

CONCLUSIONThe results suggested that the b2/b3 deletion might be a risk factor to spermatogenic impairment and might lead to male infertility.

Chromosomes, Human, Y ; genetics ; Genetic Loci ; Humans ; Infertility, Male ; genetics ; Male ; Polymerase Chain Reaction ; Seminal Plasma Proteins ; genetics ; Sequence Deletion ; genetics

OBJECTIVETo quantify the expression level of GRAF gene in acute myeloid leukemia (AML) and analyze its clinical significance.

METHODSThe EvaGreen real-time quantitative polymerase chain reaction (RQ-PCR) assay was established and performed to measure the GRAF gene transcripts in 71 cases with AML and 21 with nonmalignant hematological diseases. The clinical correlation of GRAF expression was analyzed.

RESULTSThe established EvaGreen RQ-PCR assay had good specificity, reproducibility and sensitivity. The GRAF expression level was significantly lower in AML (0.01%-169.75%, median 3.82%) than that in controls (14.49%-126.85%, median 56.04%) (P<0.05). There was no correlation between the level of GRAF transcript and the sex, age, hematologic parameters, FAB subtypes and karyotypic groups (P>0.05).

CONCLUSIONThe GRAF gene was down-regulated in AML, which might play a role in the leukemogenesis.

Adolescent ; Adult ; Aged ; Aged, 80 and over ; Child ; Child, Preschool ; Female ; GTPase-Activating Proteins ; genetics ; Humans ; Leukemia, Myeloid, Acute ; genetics ; Male ; Middle Aged ; Polymerase Chain Reaction ; methods ; Young Adult

OBJECTIVETo investigate the relationship of FGA gene 128C/G polymorphism and cerebral infarction (CI) and evaluate the effect of FGA-128C/G polymorphism on plasma fibrinogen in Hunan Hans.

METHODSFGA-128C/G polymorphism was detected by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and DNA sequencing in 194 CI patients and 114 healthy controls.

RESULTSThere were CG and CC genotypes in the FGA-128C/G locus. No GG genotype was observed in Hunan Hans. There was no significant difference in genotype and allele frequencies between the controls and CI group (P> 0.05), and statistically significant difference was not found in fibrinogen (Fg) level between the CG and CC genotypes (P>0.05). After analyzing blood plasma Fg using the influencing factor multiple regression analysis, it was shown that the Fg level had no relationship with the FGA-128C/G genotype, but it increased with age. And the Fg level in males was higher than that in females.

CONCLUSIONThere was FGA gene 128C/G polymorphism in the Hunan Han population. There was no association of this polymorphism with the increased Fg level of CI patient in the population. FGA-128C/G might not be the predisposing gene of CI in Hunan Han population. The age and sex were the major factors affecting the plasma Fg level in this population.

Aged ; Asian Continental Ancestry Group ; genetics ; Cerebral Infarction ; genetics ; Female ; Fibrinogen ; genetics ; Gene Frequency ; genetics ; Genetic Predisposition to Disease ; genetics ; Genotype ; Humans ; Male ; Middle Aged ; Polymerase Chain Reaction ; Polymorphism, Genetic ; genetics ; Polymorphism, Restriction Fragment Length

The hereditary spastic paraplegia (HSP), also known as Strumpell-Lorrain familial spasmodic paraplegia, is a highlighted clinical and genetic heterogeneity disorder with the prevalence of (2-9.6)/100,000. This disorder is characterized by progressive, usually severe spasticity and pyramidal weakness, predominantly in the lower limbs. Inheritance of this disease has been reported to be autosomal dominant (AD), autosomal recessive (AR), or X-linked recessive (XR), with the AD forms of HSP (ADHSP) being the most common type. At least 40 HSP gene loci have been localized and 19 genes have been identified. Forty percent of HSP cases are caused by mutations in the spastin (spastic paraplegia-4, SPG4) gene. Genetic diagnosis, the gold standard for diagnosis of the disease, may contribute to early diagnosis, presymptomatic diagnosis and prenatal diagnosis. The study of animal models plays an important role in revealing the molecular pathological mechanism of HSP. The known genetic research advances of the SPG4 gene are reviewed in this article.
Adenosine Triphosphatases ; genetics ; Animals ; Humans ; Spastic Paraplegia, Hereditary ; diagnosis ; genetics ; pathology ; Spastin