Objective To investigate the relationship between single nucleotide polymorphism in estrogen metabolizing genes CYP17、CYP19 and breast cancer susceptibility.Methods A case-control study was performed.PCR-base restriction fragment length polymorphism(PCR-RFLP)and short tandem repeat polymorphism(STRP)assay were used to detect the single nucleotide polymorphism of CYP17、CYP19 in 213 breast cancer cases and 430 matched controls.Resuits CYP17 A2/A2 genotype was found in 6.7%of breast cancer cases,which was significantly higher(P＜0.05)than that in controls(2.4%);the frequency of A2 allele of CYP17 was 16.2%in breast cancer cases,which was significantly higher(P＜0.05)than that in controls(10.6%).There Was alSO significant difference in the frequency of(TTTA)10allele of CYP19 which was 12.4%in breast cancer cases and 8.2%in controls(P=0.02).Conclusions The allele of CYP17 A2 and CYP19(TTTA)10 and CYP17 A2/A2 genotype were positively associated with the susceptibility of breast cancer.

Objective:To compare acquired immune deficiency syndrome (AIDS) related knowledge, attitudes, behaviors and their influencing factors among college students in different years in Beijing, and to provide evidence for targeted health education among college students in future.Methods: College students were selected by the stratified cluster sampling method, and a questionnaire survey was conducted among college students in year 2006 and 2016 in Beijing.The sample sizes were 1 800 and 3 001 college students, respectively.The contents of the questionnaire included: socio-demographic characteristics, AIDS related knowledge, AIDS related attitude, sex intercourse and its related risk behaviors, condom use intension, and AIDS related health education.Results: Compared with the year 2006, the average AIDS knowledge scores of college students in year 2016 dropped from 12.78±1.95 to 11.90±2.56 (t=12.91, P<0.05), and the correct answer rates of questions in the knowledge part were decreased, too.Except for belief on condom use, the college students were more negative on AIDS related attitude and self-efficacy in year 2016 than in year 2006.Among the students who had sex experience, the rates of commercial sex [17.65% (33/187) vs.6.53% (16/245), χ2=13.003, P<0.001] and the rates of homo-sexual intercourse [15.43% (29/188) vs.4.13% (10/242), χ2=16.356, P<0.001] were higher in year 2016 than in year 2006.The main way for the students seeking pornographic information was changed from books to internet (41.15%) in 2016 compared with the year 2016.In 2016, the influencing factors of intention on condom use were male (OR=0.713), self-efficacy of condom purchase (OR=0.876), never received sex education before college (OR=0.752), self-efficacy of condom use (OR=1.135), belief of condom use (OR=1.775), and attitude towards AIDS patients (OR=1.136).Conclusion: AIDS related knowledge, attitudes and behaviors among college students have been changed, AIDS related health education should be designed and improved based on new characteristics of college students.AIDS health education in colleges should pay more attention to sex attitude and sex responsibility and self-protection awareness among college students as well.

OBJECTIVETo assess the value of noninvasive fetal trisomy testing based on massively parallel sequencing for the detection of chromosomal deletions and duplications.

METHODSPeripheral venous blood was taken from pregnant women with a high risk. Free fetal DNA in maternal plasma was used for library construction and subjected to massively parallel sequencing. Positive results were validated by traditional karyotype analysis or array-CGH. Phenotype of the fetus was observed through patholoical evaluation.

RESULTSThirteen out of 629 cases were suspected to harbor chromosomal aberrations, which included 9 aneuploid cases and 4 structural abnormalities. The latter included one case with dup (18q) (14.35 Mb), del (18q) (21.34 Mb), one with dup (3q) (35 Mb) and two with dup (7q) (7.0 Mb). Among these, dup (18q ) (14.35 Mb), del (18q) (21.34 Mb) and dup (3q) (35 Mb) were confirmed by karyotype analysis and patholoical evaluation. However, the two cases with dup (7q) were validated by karyotype analysis and array-CGH as false positives. The phenotype with the fetus also presented as normal.

CONCLUSIONThe introduction of maternal plasma sequencing for prenatal testing could dramatically improve the efficiency for detecting large, partial (> 10 Mb) chromosomal deletions and duplications.

Adult ; Chromosome Deletion ; Chromosome Duplication ; Comparative Genomic Hybridization ; Female ; Fetal Diseases ; diagnosis ; genetics ; Genotype ; Humans ; Pregnancy ; Prenatal Diagnosis ; methods ; Reproducibility of Results ; Sensitivity and Specificity ; Sequence Analysis, DNA ; methods ; Trisomy