Objective To explore the mutations of EDA gene in 2 X - linked hypohidrotic ectodermal dyspla-sia(XLHED)pedigrees,and provide clues for the XLHED diagnosis,genetic counseling and treatment. Methods Polymerase chain reaction and direct sequencing were used to analyze the coding sequences and their flanking sequences of the EDA gene in the patients,suspicious carriers,normal family members in 2 families and non - relative control sam-ples. Results In family 1,mutation c. 659 676del18,namely p. 220 225del(Gly - X - Y)6 which was located in (Gly - X - Y)19 collagen - like repeat domain,was found in the proband and other patient's EDA gene. In family 2,an insertion c. 118 - 119insT was found in the intracellular domain,which induces reading frame alteration from the 40th a-mino acid. The mutations found in the 2 families were consistent with the principle of mutation and phenotype co - sepa-ration,but these mutations were not found in the normal control samples. EDA gene analysis of fetal amniotic fluid sam-ple from Ⅲ - 1 in the family 1 was not found to have the same mutation as the proband,and the follow - up after birth proved normal for the baby. Conclusions EDA gene c. 118 - 119insT mutation found in the research is a novel muta-tion. Sequence analysis of EDA gene is an efficient method in XLHED diagnosis,and is beneficial for the genetic coun-seling and the genetic intervention of the disease in the affected families.

OBJECTIVETo assess the association of polymorphisms of human leukocyte antigen DRB1 gene (HLA-DRB1) with susceptibility to unexplained recurrent spontaneous abortion (URSA).

METHODSThe HLA-DRB1 gene was typed with polymerase chain reaction-specific sequence primers (PCR-SSP) method in 200 couples with URSA and 200 couples with a normal pregnancy history.

RESULTSThe frequencies of DRB1*09 and DRB1*13 alleles were significantly greater in the URSA group compared with the control group (14.50% vs. 9.50%, and 7.00% vs. 4.38%, both P<0.05), whilst the frequencies of DRB1*04 and DRB1*12 alleles were significantly lower (7.13% vs. 10.75%, and 8.63% vs. 14.38%, both P<0.05). For females from the URSA group, the frequency of DRB1*09 allele (14.00%) was significantly higher compared with the controls (9.25%) (P=0.036), whilst the frequency of DRB1*12(8.50%) allele was significantly lower (14.00%) (P=0.014). For males in the URSA group, the frequencies of DRB1*09 and DRB1*13 alleles were significantly higher than those of the controls (15.00% vs. 9.75%, and 9.25% vs. 4.00%, both P<0.05), whilst the frequencies of DRB1*04 and DRB1*12 alleles were significantly lower (5.75% vs. 12.25%, and 8.75% vs. 14.75%, P<0.05).

CONCLUSIONThe DRB1*09 and DRB1*13 alleles may contribute to the susceptibility of URSA, while DRB1*04 and DRB1*12 alleles may confer a protective effect factors. For females, however, no significant association of DRB1*13 and DRB1*04 alleles with URSA was found.

Abortion, Spontaneous ; ethnology ; genetics ; Alleles ; Asian Continental Ancestry Group ; ethnology ; genetics ; Female ; Gene Frequency ; Genetic Association Studies ; Genetic Predisposition to Disease ; HLA-DRB1 Chains ; genetics ; Humans ; Male ; Polymorphism, Single Nucleotide ; Pregnancy ; Young Adult

OBJECTIVETo explore the value of HLA-DRB1 gene in predicting the outcome of unexplained recurrent spontaneous abortion (URSA) treated with paternal lymphocyte alloimmunization therapy (PLAT) in Henan Hans.

METHODSThree hundred URSA patients were recruited. Following PLAT treatment, they were divided into two groups according to the outcome of pregnancy. Polymerase chain reaction sequence specific primer (PCR-SSP) were conducted to analyze the HLA-DRB1 gene.

RESULTSFor those who have received PLAT treatment, the frequency of HLA-DRB1*11 was significantly lower in successfully treated cases than those with abortion (0.052 vs. 0.110, P < 0.05, OR=0448), whilst the frequency of HLA-DRB1*15 was significantly greater in the former (0.207 vs. 0.100, P < 0.05, OR=2.352).

CONCLUSIONFor patients who have received PLAT treatment, those with HLA-DRB1*15 are more likely to conceive that those with HLA-DRB1*11.

Abortion, Spontaneous ; ethnology ; genetics ; immunology ; therapy ; Asian Continental Ancestry Group ; ethnology ; genetics ; China ; Female ; Genetic Predisposition to Disease ; ethnology ; HLA-DRB1 Chains ; genetics ; Humans ; Immunotherapy ; Isoantigens ; immunology ; Lymphocytes ; immunology ; Male ; Pregnancy ; Treatment Outcome

Objective To explore the role of next-generation sequencing(NGS)technology in the assisted diagnosis of RA-Sopathies.Methods Peripheral blood was extracted from 1 child patient with suspected Noonan syndrome and her parents,and the gene mutations were detected by adopting the aCGH and NGS.The results were verified by Sanger sequencing.Results The NGS results revealed that the heterozygous mutation of c.1406G>A existed in BRAF gene,and the results of Sanger sequencing in this child case was consistent with the NGS results.The Sanger sequencing results in her parents showed the locus was G/G wild type. Conclusion This child case was diagnosed as CFC.NGS plays a good auxiliary role in the differentiation diagnosis of RASopathies.

Objective:To explore the clinical application and triage management value of using blood circulating cell-free DNA (cfDNA) (cysteine dioxygenase type 1 gene, CDO1, and Homeobox protein A9 gene, HOXA9) hypermethylation level to detect and diagnose ovarian cancer.Methods:A case-control study was conducted on patients who went for surgery at Chengdu Womens and Childrens Central Hospital from November 2022 to October 2023. Blood samples were collected before surgery for evaluation of cancer antigen 125 (CA125), human epididymis protein 4 (HE4), risk of ovarian malignancy algorithm (ROMA) score, and DNA methylation testing. The basic clinical information, biomarkers, and transvaginal ultrasound (TVS) information were collected simultaneously. Information from a total of 151 patients was collected, including 122 cases with benign pathology and 29 ovarian cancer cases. The pathologic diagnosis of ovarian tissue was defined as the gold standard. The multivariate logistic regression analysis was used to identify high-risk factors for ovarian cancer. The clinical efficacy of DNA methylation detection for ovarian cancer was analyzed using the area under curve (AUC).Results:The results showed that the age, menopausal status, CA125 and HE4 detection, ROMA score, positivity rate of CDO1 gene and HOXA9 gene single or combined testing in ovarian cancer patients were higher than those in the benign group and showed significant differences ( P<0.05). Among these detection protocols, the AUC of CDO1 and HOXA9 dual gene methylation testing for ovarian cancer was the highest at 0.936 (95% CI, 0.878-0.994), with 89.7% (95% CI 73.6%-96.4%) sensitivity and 97.5% (95% CI 93.0%-99.2%) specificity, respectively. The positive detection rate of CDO1 and HOXA9 dual gene methylation in early ovarian cancer FOGO I-II stage is 12/14 higher than other tests. Conclusion:Blood cfDNA methylation detection, a simple, non-invasive, and highly sensitive detection method, is superior to the current ovarian cancer testing in the risk assessment and early detection.

Objective: To investigate the prevalence characters of peripheral artery disease (PAD) and associated factors among people aged 35 and above in Beijing. Methods: This was a cross-sectional study. A total of 5 208 community-based individuals aged equal and above 35 in Beijing were chosen with stratified multistage random sampling method. Structure questionnaire was used to collected the information of demographic factors, habits and chronic disease history. Ankle brachial blood pressure was detected and ankle brachial index (ABI) was calculated. ABI was used to diagnose PAD (ABI≤0.90). Based on the 2010 Beijing Municipal Population Census, the age-and gender-specific weight-adjusted sample was acquired to estimate the prevalence of PAD and corresponding 95% confidence intervals (CI). Multivariate logistic regression analysis was performed to estimate the associated factors of PAD. Results: The age-and sex-standardized prevalence of PAD was 3.84% (200/5 208, 95%CI 3.32%-4.36%). There was no significant difference between male and female (3.83%(102/2 664, 95%CI 3.10%-4.56%) vs. 3.85% (98/2 544, 95%CI 3.10%-4.60%), P=0.965). The prevalence of PAD in urban was higher than that in rural (4.34% (163/3 755, 95%CI 3.69%-4.99%) vs. 2.55% (37/1 453, 95%CI 1.74%-3.36%), P=0.001). Furthermore, the prevalence of PAD increased with age (P_trend<0.01), and the difference between genders did not change with ageing (all P>0.05). In addition, age (OR=1.03, 95%CI 1.01-1.04), urban (OR=1.52, 95%CI 1.08-2.12), smoking (OR=1.83, 95%CI 1.29-2.59), hypertension (OR=1.61, 95%CI 1.17-2.22) and diabetes (OR=1.44, 95%CI 1.08-1.93) were related with increased risk of PAD in logistic regression analysis models. Conclusions The prevalence of PAD increases with age in Beijing and there are significant difference between urban and rural on prevalence of PAD. Age, urban, smoking, hypertension and diabetes are related with increased risk of PAD.

OBJECTIVE: To provide genetic testing for two brothers with mental retardation and epilepsy. METHODS: Array comparative genomic hybridization (aCGH) was used to detect copy number variations in the two patients, their parents and maternal grandparents. Methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) was utilized to delineate the deleted region in the pedigree. RESULTS: A 138 kb deletion in 15q11.2 region was detected by aCGH in both patients, which encompassed part of the UBE3A gene. MS-MLPA has narrowed down the region to exons 8 to 14 of the UBE3A gene. The same deletion was also found in their mother and grandfather. CONCLUSION The pathogenesis of this rare form of recurrent Angelman syndrome may be attributed to the partial deletion of maternal UBE3A gene.
Angelman Syndrome ; Comparative Genomic Hybridization ; DNA Copy Number Variations ; Female ; Gene Deletion ; Humans ; Male ; Sequence Deletion ; Ubiquitin-Protein Ligases