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1.
Article in Chinese | WPRIM | ID: wpr-928439

ABSTRACT

OBJECTIVE@#To analyze the genomic variation characteristics of fetal with abnormal serological screening, and to further explore the value of copy number variation (CNV) detection technology in prenatal diagnosis of fetal with abnormal serological screening.@*METHODS@#7617 singleton pregnant women who underwent amniocentesis for prenatal diagnosis solely due to abnormal Down's serological screening were selected. According to the results of serological screening, the patients were divided into high risk group, borderline risk group and single abnormal multiple of median (MOM) group. CMA and CNV-Seq were used to detect the copy number variation of amniotic fluid cell genomic DNA and combined with amniotic fluid cell karyotype analysis for prenatal diagnosis. Outpatient revisit combined with telephone inquiry was used for postnatal follow-up.@*RESULTS@#Among 7617 amniotic fluid samples, aneuploidy was detected in 138cases (1.81%) by CMA and CNV-Seq, 9 cases of aneuploid chimerism were detected by amniotic fluid cell karyotype analysis, and 203 cases of fetus carrying pathogenic and likely pathogenic CNV (P/LP CNV) were detected, the variant of uncertain significance (VUS) was detected in 437 cases (5.7%), the overall abnormal detection rate was 10.33%. The detection rate of aneuploidy by CMA and CNV-Seq in three group were 123 cases (2.9%), 13 cases (1.3%) and 2 cases (0.4%), respectively,and showing no significant difference (χ 2=7.469, P=0.024). The detection rate of pathogenic and likely pathogenic CNV in three group were 163cases (2.6%); 24 cases (2.6%) and 16 cases (3.3%), respectively, and showing no significant difference (χ 2=0.764, P=0.682). The CMA reported 2.9% (108/3729)P/LP CNV, and CNV-seq reported 2.4% (95/3888)P/LP CNV, both tests showed similar detective capabilities (χ 2=1.504, P=0.22).The most popular P/LP CNV in this cohort were Xp22.31 microdeletion, 16p13.11 microduplication /microdeletion, 22q11.21 microduplication /microdeletion. In fetuses with P/LP CNV CNV, 59 fetuses were terminated pregnancy, and 32 of 112 fetuses born had abnormal clinical manifestations. Non-medically necessary termination of pregnancy occurred in 11 fetuses carrying VUS CNV, 322 fetuses carrying VUS CNV were born, 4 of them presented abnormal clinical manifestations.@*CONCLUSION@#Compared with the traditional chromosome karyotype, CMA and CNV-Seq can improve the detection rate of pathogenic and likely pathogenic CNV. CMA and CNV-seq can be used for first tier diagnosis of pregnant women in the general population with abnormal Down's serological screening.


Subject(s)
Amniotic Fluid , Aneuploidy , Chromosome Aberrations , DNA Copy Number Variations , Female , Genomics , Humans , Pregnancy , Pregnancy Trimester, Second , Pregnant Women , Prenatal Diagnosis/methods , Technology
2.
Article in Chinese | WPRIM | ID: wpr-912435

ABSTRACT

Objective:To summarize and analyze the risk of pregnancy recurrence of women with Duchenne muscular dystrophy (DMD) birth history in families with new DMD gene mutations, clarify the laws of DMD gene mutations and discuss the mode of genetic counseling in such families.Methods:Collected DMD families from January 2013 to December 2017 in Henan Provincial People′s Hospital. Firstly, the 79 exons of DMD gene were analyzed by multiplex ligation-dependent probe amplification (MLPA) in DMD patients and their mothers. The families that DMD patients with DMD gene mutations but no mutations in their mothers were selected for this study, and then MLPA combined with STR-gene linkage analysis were used to perform prenatal diagnosis for females in these DMD gene new mutation families.Results:A total of 64 families with new DMD gene mutations were included in this study. All mutations were DMD gene exon deletion mutations. A total of 65 fetuses were conducted prenatal diagnosis, included 26 SRY negative, 39 SRY positive; 63 fetuses′ DMD gene normal and 2 fetues′ DMD gene with exon deletion mutations. The results of postpartum follow-up and prenatal diagnosis were consistent.Conclusions:Exon mutations in newly mutated DMD families were mainly manifested as exon deletion, mainly presented in the 45-55 exon region. For families with new DMD mutations, even if there is no DMD gene mutation in women which had reproductive history of DMD, prenatal diagnosis for DMD during pregnancy was still recommended.

3.
Article in Chinese | WPRIM | ID: wpr-871638

ABSTRACT

Objective:To study the outcomes of coronavirus disease 2019 (COVID-19) patients with history of thoracotomy.Methods:A retrospective analysis of clinical diagnosis, treatment data and outcomes of 10 COVID-19 patients with history of thoracotomy were studied in Tongji Hospital of Wuhan.Results:10 COVID-19 patients with history of thoracotomy were severe or critical cases. The clinical manifestations of all patients were mainly represented in respiratory system, and these patients were all confirmed by chest CT and virus nucleic acid detection. After admission, all patients were given oxygen therapy, antiviral therapy (abidol and Lianhuaqingwen), and antibiotic therapy (Moxifloxacin and / or Cefoperazone Sodium and Sulbactam Sodium). Finally, 3 patients died of respiratory failure and 7 patients were cured and discharged smoothly.Conclusion:COVID-19 patients with a history of thoracotomy are easy to develop progression, and the use of antibiotics might be more active. At present, there is no specific treatment, and the combination of multiple methods may be effective.

4.
Article in Chinese | WPRIM | ID: wpr-781286

ABSTRACT

OBJECTIVE@#To carry out genetic testing and prenatal diagnosis for 90 families affected with spinal muscular atrophy (SMA), and discuss the necessity for carrier screening.@*METHODS@#All families were subjected to multiplex ligation-dependent probe amplification (MLPA) analysis. Combined MLPA and allele-specific PCR (AS-PCR) was used for prenatal diagnosis of the pregnant women.@*RESULTS@#Among the 90 couples, 84 (93%) had a negative family history, 85 (94%) had given birth to an affected child before. Eighty-five husbands and 88 wives carried heterozygous deletion of exon 7 of the SMN1 gene. Two wives had homozygous deletion of exon 7 of the SMN1 gene and were affected. Prenatal diagnosis showed that 19 fetuses were SMA patients, 48 fetuses were carriers, and 23 fetuses were normal. Of note, eighteen affected fetuses were conceived by couples without a family history, which accounted for 20% of all pregnancies and 95% of all affected fetuses.@*CONCLUSION@#To screen SMA carriers using MLPA and carry out prenatal diagnosis using combined MLPA and AS-PCR can ensure accurate diagnosis, which has a significant value for the prevention of SMA affected births.

5.
Article in Chinese | WPRIM | ID: wpr-771982

ABSTRACT

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.


Subject(s)
Angelman Syndrome , Comparative Genomic Hybridization , DNA Copy Number Variations , Female , Gene Deletion , Humans , Male , Sequence Deletion , Ubiquitin-Protein Ligases
6.
Article in Chinese | WPRIM | ID: wpr-776806

ABSTRACT

OBJECTIVE@#To carry out genetic diagnosis for a pedigree affected with cutis laxa.@*METHODS@#Genomic DNA was extracted from peripheral blood samples from members of the pedigree and 50 unrelated healthy controls. Potential mutation was screened by next-generation sequencing and verified by Sanger sequencing.@*RESULTS@#A heterozygous c.1985delG mutation was identified in the ELN gene among all patients from this pedigree. The same mutation was not found among unaffected family members and 50 healthy controls.@*CONCLUSION@#The genetic etiology for the pedigree has been elucidated, which has enabled genetic counseling and guidance for reproduction.


Subject(s)
Cutis Laxa , Genetics , Elastin , Genetics , Heterozygote , High-Throughput Nucleotide Sequencing , Humans , Mutation , Pedigree
7.
Article in Chinese | WPRIM | ID: wpr-776754

ABSTRACT

OBJECTIVE@#To carry out genetic testing and prenatal diagnosis for a family affected with Duchenne muscular dystrophy (DMD).@*METHODS@#Multiplex ligation dependent probe amplification (MLPA) was used to detect potential deletion and duplication of the Dystrophin gene. Haplotype analysis was performed using five short tandem repeat polymorphism loci (3'-STR, 5'-STR, 45-STR, 49-STR, 50-STR of the DMD gene.@*RESULTS@#A same deletional mutation (exons 51-55) of the DMD gene was detected in two brothers but not in their mother. The patients and fetus have inherited different haplotypes of the Dystrophin gene from their mother, suggesting that the fetus was unaffected.@*CONCLUSION@#The mother was very likely to harbor germline mosaicism for the Dystrophin gene variant. Genetic testing of peripheral blood samples cannot rule out germline mosaicism in the mother. Prenatal diagnosis should be provided for subsequent pregnancies in this family.


Subject(s)
Dystrophin , Genetics , Exons , Female , Gene Deletion , Germ-Line Mutation , Humans , Male , Mosaicism , Muscular Dystrophy, Duchenne , Genetics , Pregnancy , Prenatal Diagnosis
8.
Article in Chinese | WPRIM | ID: wpr-775767

ABSTRACT

OBJECTIVE@#To carry out genetic testing for a family affected with distal hereditary motor neuronopathy V (dHMN V).@*METHODS@#Potential mutations of the GARS and BSCL2 genes were analyzed with PCR and Sanger sequencing. Suspected mutation was verified among unaffected members of the family and 100 healthy controls. Prenatal diagnosis was provided based on the above results.@*RESULTS@#Sequencing analysis has identified a heterozygous c.269C>T (p.S90L) mutation in the BSCL2 gene, which resulted in replacement of Serine (TCG) to Leucine (TTG). The same mutation was found in all other 3 patients from the pedigree but not among unaffected members or the 100 healthy controls. By prenatal diagnosis, the fetus did not carry the above mutation.@*CONCLUSION@#Pathogenic mutation of BSCL2 gene probably underlies the dHMN V in this pedigree, which enabled prenatal diagnosis for the proband.


Subject(s)
Female , GTP-Binding Protein gamma Subunits , Humans , Muscular Atrophy, Spinal , Mutation , Pedigree , Pregnancy
9.
Article in Chinese | WPRIM | ID: wpr-796470

ABSTRACT

Objective@#To carry out genetic testing and prenatal diagnosis for a family affected with Duchenne muscular dystrophy (DMD).@*Methods@#Multiplex ligation dependent probe amplification (MLPA) was used to detect potential deletion and duplication of the Dystrophin gene. Haplotype analysis was performed using five short tandem repeat polymorphism loci (3'-STR, 5'-STR, 45-STR, 49-STR, 50-STR of the DMD gene.@*Results@#A same deletional mutation (exons 51-55) of the DMD gene was detected in two brothers but not in their mother. The patients and fetus have inherited different haplotypes of the Dystrophin gene from their mother, suggesting that the fetus was unaffected.@*Conclusion@#The mother was very likely to harbor germline mosaicism for the Dystrophin gene variant. Genetic testing of peripheral blood samples cannot rule out germline mosaicism in the mother. Prenatal diagnosis should be provided for subsequent pregnancies in this family.

10.
Article in Chinese | WPRIM | ID: wpr-697393

ABSTRACT

Objective To explore the overall relationship between social support and mental health among Chinese nurses and analyze potential moderators and provide a theoretical basis for improving nurses' mental health level. Methods The CNKI database, CQVIP, WAN-FANG DATA and China Outstanding Dissertations Database were searched for literature, in which the social support rating scale (SSRS, measured social support) and self-rating symptom scale (SCL-90, measured mental health) was used to investigate the correlation of social support and mental health in Chinese nurses. A total of 25 articles (including 25 independent samples, 4747 nurses) met the inclusion criteria and were analyzed by meta-analysis and meta-regression. Results The overall mean effect size calculation showed a significant negative correlation between social support and depression among Chinese nurses ( r=-0.17, 95% CI=-0. 24~-0.09, p<0.01). In the following analysis, the objective support, compared with subjective support and utilization degree, was more strongly correlated with SCL-90 (r =-0.20,-0.15,-0.13, Q =13.45, p < 0.01). In addition, the relationship could be influenced by factors such as age, publishing type, publishing age and region. Conclusions The social support is closely related to mental health in Chinese nurses, and the relationship could be influenced by the related factors. At the same time, the relationship between objective support and mental health is more closely related than subjective support and support utilization.

11.
Chongqing Medicine ; (36): 1074-1076, 2018.
Article in Chinese | WPRIM | ID: wpr-691916

ABSTRACT

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.

12.
Article in Chinese | WPRIM | ID: wpr-687980

ABSTRACT

<p><b>OBJECTIVE</b>To detect potential mutation in a Chinese pedigree affected with familial exudative vitreoretinopathy (FEVR).</p><p><b>METHODS</b>Clinical data of the pedigree was collected. Coding regions of candidate genes were amplified by PCR and subjected to next generation sequencing (NGS). Suspected mutations were verified by Sanger sequencing and segregation analysis.</p><p><b>RESULTS</b>Two novel heterozygous mutations (c.1695dupC and c.552-563del) were respectively detected in the LRP5 and ZNF408 genes in the proband. Both mutations were inherited from the affected mother. By Sanger sequencing, the c.552-563del mutation was also detected among unaffected members, while the c.1695dupC mutation was only detected in affected members from the pedigree and was not recorded by the HGMD, NCBI, or 1000 genome database. Upon prenatal diagnosis, the fetus was found to carry the same mutations.</p><p><b>CONCLUSION</b>Combined NGS and Sanger sequencing not only can reduce the time required for diagnosis but also enable accurate prenatal diagnosis for FEVR.</p>


Subject(s)
Child, Preschool , DNA-Binding Proteins , Genetics , Female , High-Throughput Nucleotide Sequencing , Humans , Low Density Lipoprotein Receptor-Related Protein-5 , Genetics , Mutation , Pedigree , Prenatal Diagnosis , Retinal Diseases , Genetics , Transcription Factors , Genetics
13.
Journal of Breast Cancer ; : 142-149, 2018.
Article in English | WPRIM | ID: wpr-714867

ABSTRACT

PURPOSE: The long non-coding RNA H19, a conservatively imprinted gene, acts as a molecular sponge for the let-7 family, which has been identified as a set of tumor suppressors. However, the combined prognostic value of H19 and let-7a signature in breast cancer patients remains unclear. METHODS: In this research we assessed the prognostic value of the combined H19 and let-7a signature in breast cancer patients by retrospectively reviewing that data of 79 patients who underwent neoadjuvant chemotherapy; we also investigated the expression and function of H19 in breast cancer cell lines in vitro. Survival data were calculated using the Kaplan-Meier method and compared using the log-rank test. Univariate and multivariate survival analyses were conducted using the Cox proportional hazards regression method. As determined using X-tile, the optimal cutoff value for the risk score to assess progression-free survival (PFS) based on the combined signature was –0.1. RESULTS: Patients with an overall positive treatment response had higher let-7a and lower H19 levels. In addition, let-7a expression was negatively correlated with H19 expression. Patients with a risk score of >–0.1 had shorter overall survival and PFS. In vitro data showed that chemoresistant cell lines exhibit higher H19 and lower let-7a levels and knockdown H19 restores paclitaxel sensitivity. CONCLUSION: Our results suggest that the combined let-7a and H19 signature is a novel prognostic factor for breast cancer patients treated with neoadjuvant chemotherapy.


Subject(s)
Breast Neoplasms , Breast , Cell Line , Disease-Free Survival , Drug Therapy , Humans , In Vitro Techniques , Methods , Neoadjuvant Therapy , Paclitaxel , Porifera , Prognosis , Retrospective Studies , RNA, Long Noncoding
14.
Article in Chinese | WPRIM | ID: wpr-712192

ABSTRACT

Objective To conduct genetic diagnosis and prenatal diagnosis for a haemophilia B family with multi-nucleotides deletion mutation of F9 gene.Methods This is a genetic analysis.Whole exon mutation of the F9 gene was analyzed by PCR and Sanger sequencing for seven patients with the family of hemophilia B who consulted doctors in Henan Province People′s Hospital in April 2013.Suspected mutation was verified among non-hemophilia B members of the family and 100 healthy controls to rule out genetic polymorphism of the F9 gene.The above-mentioned detection results of hemophilia B gene , the pathogenic mutation of F9 gene in the family was clarified , and prenatal diagnosis was conducted for the female carriers in the family.It is recommended that the fetal gene detection should be conducted in amniotic fluid in the mid-term pregnancy of the female carriers of hemophilia , and then they can be informed of the non-hemophilia B fetus by the results of the gene detection .Results PCR and sequencing analysis has identified a deletion mutation of F9 gene c.185_188delGAGA[p.Glu62Asnfs?41]in seven hemophilia B patients.This mutation induced F9 gene frame shift mutation which led to early termination of F9 gene translation because there was a termination codon TAA at the 41th codon after the mutation site.The same mutation was not found among the non-hemophilia B members of the family and the 100 healthy controls. There were eight female carriers and nine female non-carriers in the family.Upon prenatal diagnosis , the Y chromosome sex-determining gene ( SRY ) in amniotic fluid was positive and no deletion mutation was observed in the F9 gene c.185_188.Conclusion The pathogenic mutation of F9 gene in the family was identified , which was helpful for prenatal diagnosis in female carriers .

15.
Article in Chinese | WPRIM | ID: wpr-335140

ABSTRACT

<p><b>OBJECTIVE</b>To study the genetic polymorphisms and mutations of 20 frequently used autosomal microsatellites among ethnic Hans from Henan.</p><p><b>METHODS</b>Peripheral blood samples of 2604 individuals were collected. DNA was amplified and genotyped using a PowerPlex(TM) 21 system. The frequencies, forensic parameters and mutation rates of the 20 short tandem repeat (STR) loci were analyzed.</p><p><b>RESULTS</b>A total of 323 alleles were found in this population and the allelic frequencies have ranged from 0.0003 to 0.5144. Except for D3S1358, TH01 and TPOX, mutations have been found in all of the remaining 17 STR loci, which totaled 47, with mutation rates ranging from 0 to 3.46 × 10.</p><p><b>CONCLUSION</b>The 20 STR loci selected by the PowerPlex(TM) 21 system are highly polymorphic among ethnic Hans from Henan, and may be of great value in forensic and human population studies. As no similar study has been carried out previously, above results may be of great value for individual discrimination and paternal testing.</p>


Subject(s)
Adolescent , Adult , Alleles , Asians , Ethnology , Genetics , Child , Child, Preschool , China , Ethnology , Female , Genotype , Humans , Male , Microsatellite Repeats , Mutation , Pedigree , Polymorphism, Genetic , Young Adult
16.
Article in Chinese | WPRIM | ID: wpr-487756

ABSTRACT

BACKGROUND:Regulatory T cels (Treg) are classified into two subsets, nature Treg (nTreg) and induced Treg (iTreg). Although there is consensus that CD4+CD25+FoxP3+CD127-is the widely accepted phenotype of Treg, it remains unclear what is the difference in phenotypes including cytokine patterns of nTreg and iTreg. OBJECTIVE:To understand and compare the plasticity of nTreg and iTreg and to search the exact mechanism of cytokine secretion in Tregs. METHODS: We investigated the frequency and cytokine pattern of CD4+CD25+FoxP3+CD127-nTreg in freshly separated peripheral blood mononuclear cels of five healthy individuals using 8-color fluorescence flow cytometry (FACSCanto II). Subsequently, after 9 days of alostimulation in mixed lymphocytes, the frequency and cytokine pattern of CD4+CD25+FoxP3+CD127-iTreg were determined and analyzed. RESULTS AND CONCLUSION:In fresh cels, (1.5±0.70)% of CD4+ T cels were CD4+CD25+FoxP3+CD127- nTregs. Almost al these cels expressed interferon (IFN)-γ-, interleukin (IL)-2- or transforming growth factor-β+, and partial cels expressed IL-10+ or IL-10-. After 9-day alostimulation, the number of CD4+CD25+FoxP3+CD127- iTreg expressing IFN-γ+, IL-2-, IL-2+, IL-10+ or TGF-β+increased strongly. The main subsets of human nTregs were CD4+CD25+FoxP3+CD127-IFN-γ-IL-2-IL-10+TGF-β+and CD4+CD25+FoxP3+CD127-IFN-γ-IL-2-IL-10-TGF-β+ T cels. The proportion of each subset in CD4+ T cels was (1.1±0.59)% and (0.39±0.16)%, respectively. Whereas the main subsets of human iTregs were CD4+CD25+FoxP3+CD127-IFN-γ+IL-2-IL-10+TGF-β+ and CD4+CD25+FoxP3+CD127-IFN-γ+IL-2+IL-10+TGF-β+. Human nTregs were characterized as IFN-γ-IL-2- double negative, producing IL-10 and TGF-β or only TGF-β without IL-10, and not proliferatingin vitro. During the alostimulation in mixed lymphocytes, IFN-γ+ iTregs proliferated remarkably. One-third of IFN-γ+ iTreg expressed IL-2+, and two-thirds of IFN-γ+ iTregs expressed IL-2, both of which produce IL-2 and TGF-β. Our results imply that CD4+CD25+FoxP3+CD127- Treg are potentialy immunosuppressive probably because of their mandatory TGF-β and optional IL-10 production.

17.
Article in Chinese | WPRIM | ID: wpr-345394

ABSTRACT

<p><b>OBJECTIVE</b>To analyze the clinical manifestations and mutation of MYH9 gene in a large Chinese family affected with MYH9-related thrombocytopenia.</p><p><b>METHODS</b>After informed consent was obtained; clinical examination and history investigation was performed on 29 members of the family. DNA was extracted using a standard method, then exons 1 to 40 and their corresponding exon-intron junctions of the MYH9 gene were amplified with PCR and subjected to Sanger sequencing. The results were compared to reference sequence from the University of California, Santa Cruz (UCSC) to screen the mutation. PCR and Sanger sequencing was performed on genome DNA of all family members to confirm the identified mutation.</p><p><b>RESULTS</b>The clinical manifestations of family members were prominently heterogeneous. Four affected members showed hearing loss or deafness, two affected members showed nephritis or kidney failure, and other affected members was only characterized by mild bleeding or with no obvious symptoms. A heterozygous missense mutation c.4270G>A (p.Aspl841Asn) in exon 30 of the MYH9 gene was identified in all affected members from this family, which also co-segregated with the phenotype.</p><p><b>CONCLUSION</b>A missense mutation c.4270G>A (p.Aspl841Asn) within the exon 30 of the MYH9 gene was identified to be associated with MYH9-related thrombocytopenia in a Chinese family.</p>


Subject(s)
Amino Acid Sequence , Asians , Genetics , China , DNA Mutational Analysis , Exons , Genetics , Family Health , Female , Genetic Predisposition to Disease , Ethnology , Genetics , Heterozygote , Humans , Male , Molecular Motor Proteins , Genetics , Mutation, Missense , Myosin Heavy Chains , Genetics , Pedigree , Sequence Homology, Amino Acid , Thrombocytopenia , Ethnology , Genetics
18.
Article in Chinese | WPRIM | ID: wpr-480536

ABSTRACT

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.

19.
Article in Chinese | WPRIM | ID: wpr-239461

ABSTRACT

<p><b>OBJECTIVE</b>To explore the effect of MTHFR and MTRR genes polymorphisms on chromosomes 18 and 21 non-disjunction through investigation of Henan Han Chinese young females with a gestational history of trisomy 21 (Down syndrome, DS) or trisomy 18 (Edwards syndrome, ES).</p><p><b>METHODS</b>Polymorphisms of MTHFR 677C/T, MTHFR 1298A/C and MTRR 66A/G were analyzed in 73 healthy females (controls group), 78 females with a gestational history of DS (DS group) and 54 females with a gestational history of ES (ES group) by direct sequencing of PCR products from amplification of peripheral blood lymphocyte DNA.</p><p><b>RESULTS</b>The frequency of MTHFR 677T allele was significantly different among the DS group, ES group and the control group (P<0.05). The frequency of MTRR 66G allele was significantly different only between the DS group and the control group (P<0.05). MTHFR 1298A/C polymorphisms were not associated with either ES or DS. Compared with the wild genotype MTHFR 677CC or MTRR 66AA, carriers of the MTHFR 677CT, 677TT, or MTRR 66GG genotypes had respectively 2.694 times (95%CI: 1.204-6.025, P<0.05), 5.451 times (95%CI: 2.211-13.435, P<0.05) and 9.618 times (95%CI: 2.085-44.365, P<0.05) risk of bearing a DS baby. Compared with the wild genotype MTHFR 677CC, carriers of the MTHFR 677CT and 677TT genotype had respectively 2.701 times (95%CI: 1.133-6.438, P<0.05) and 3.804 times (95%CI: 1.406-10.293, P<0.05) risk of bearing a ES baby. Neither MTRR 66AG or 66GG genotype was associated with the occurrence of ES.</p><p><b>CONCLUSION</b>The MTHFR 677T and MTRR 66G may represent a risk factor for DS gestation, while MTHFR 677T may represent a risk factor for ES gestation for Chinese Han females.</p>


Subject(s)
Adult , Asians , Ethnology , Genetics , Case-Control Studies , China , Chromosomes, Human, Pair 18 , Genetics , Chromosomes, Human, Pair 21 , Genetics , Down Syndrome , Ethnology , Genetics , Female , Ferredoxin-NADP Reductase , Genetics , Humans , Methylenetetrahydrofolate Reductase (NADPH2) , Genetics , Polymorphism, Single Nucleotide , Trisomy , Genetics , Trisomy 18 Syndrome , Young Adult
20.
Article in Chinese | WPRIM | ID: wpr-291767

ABSTRACT

<p><b>OBJECTIVE</b>To 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.</p><p><b>METHODS</b>Three 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.</p><p><b>RESULTS</b>For 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).</p><p><b>CONCLUSION</b>For patients who have received PLAT treatment, those with HLA-DRB1*15 are more likely to conceive that those with HLA-DRB1*11.</p>


Subject(s)
Abortion, Spontaneous , Ethnology , Genetics , Allergy and Immunology , Therapeutics , Asians , Ethnology , Genetics , China , Female , Genetic Predisposition to Disease , Ethnology , HLA-DRB1 Chains , Genetics , Humans , Immunotherapy , Isoantigens , Allergy and Immunology , Lymphocytes , Allergy and Immunology , Male , Pregnancy , Treatment Outcome
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