Objective To analyze the mutations of IDS gene in a mucopolysaccharidosis type Ⅱ (MPS Ⅱ) family and to make prenatal diagnosis on the high-risk fetus which has been pregnant for eleven weeks.Methods IDS gene was analyzed by bidirectional DNA sequencing in 2 patients and their mother,and 5 unaffected individuals.Prenatal diagnosis for the high-risk fetus was performed by chorionic villus sampling after the genotypes was identified.Results The mutation c.344delA (N115fsX15) was detected in the two patients,and the mother of patients carried the heterozygous c.344delA (N115fsX15) mutation.None of the mutant was detected in the 5 unaffected subjects.The fetus carried c.344delA (N115fsX15) heterozygous mutation and was a carrier.Conclusion The deletion mutation c.344delA (N115fsX15) is causative to the pedigree of MPS Ⅱ,and prenatal diagnosis is the efficient method to avoid defect birth.

Objective To discuss the difference of handwriting characteristics of schizophrenia,neurosis and healthy people according to the gender,the age and the level of educated.Methods The handwriting data were obtained under the standard condition of handwriting,then the 24 Chinese characters handwriting image information were transformed into digital data using the quantitative characteristics of Chinese characters handwriting recognition system (CCQAS4.0),finally the data of 99 patients with schizophrenia and 131 patients with neurosis were analyzed.Results Many significant differences had been found in schizophrenia,neurosis and norm group (P ＜0.05,P＜0.01),such as footer space((198.33±26.50) mm,(180.31±39.31)mm,(192.39±35.08) mm),average line spacing ((4.02 ± 1.68) mm,(5.34 ± 2.20) mm,(4.76 ± 2.00) mm) etc ; and there were also some important differences between the schizophrenia patient and the neurosis patient from different gender,age and education level in the 24 handwriting characteristics (P＜0.05,P＜0.01).Conclusions (1) Significant handwriting characteristic differences have surely been found among the schizophrenia/neurosis patient and normal people.(2) Gender,age and education level have impact on the characteristic in the schizophrenia patient and the neurosis patient.

Objective To identify the mutation of trafficking protein particle complex 2 (TRAPPC2) gene in a large Chinese pedigree with X-linked spondyloepiphyseal dysplasia tarda by the PCR-based capillary electrophoresis methods.Methods The blood samples were collected from a large Chinese pedigree of three generations with six affected persons with X-SEDT.Four exons comprising the TRAPPC2 gene open reading frame as well as their exor/intron boundaries were analyzed by argrose electrophoresis and bidirectional direct sequencing of PCR products.Fluorescence labeled fragment analysis was performed by capillary electrophoresis.Results A 5-bp deletion mutation of TRAPPC2 gene in exon 5,c.262_266delGACAT (D88del; I89fX12),was identified in the proband and his unaffected mother(a heterozygote) in the Chinese family with X-SEDT,but no other sequence change occurring in exons 3,4 and 6 was detected.The old sister of proband was determined being carriers because she carries the deletion fragment allele of exon 5 PCR product and the young sister being normal individuals because she carries the wild allele of TRAPPC2 gene.Conclusions The mutation c.262_266delGACAT (D88del; I89fX12) of TRAPPC2 gene was firstly reported in Chinese people.The mutation of c.262_266delGACAT (D88del; I89fX12) in TRAPPC2 gene may be the pathologic cause of the patients in the X-SEDT pedigree.Fragment analysis combined with DNA sequencing by capillary electrophoresis method is effective laboratory test in the small deletion mutation analysis and carriers screening in X-SEDT family.

目的探讨应用湿性愈合疗法治疗压疮的疗效。方法将54例压疮患者分为湿性愈合治疗组和传统治疗组,并对两组患者的创面愈合时间、护理工作量、治疗费用进行比较。结果与传统疗法相比,湿性愈合疗法可使压疮的平均愈合时间缩短,换药次数与时间明显减少,而治疗费用接近。结论在有效处理伤口的基础上,湿性愈合疗法更有助于伤口愈合,无需每日换药,不增加患者负担,可替代传统换药方法。

OBJECTIVE: To detect potential mutation in a pedigree affected with autosomal recessive non-syndromic deafness. METHODS: Mutation analysis was carried out by next generation sequencing, and suspected mutations were verified by Sanger sequencing. RESULTS: A heterozygous c.235delC mutation of the GJB2 gene, together with compound heterozygous mutations of the OTOF gene [c.1194T>A (p.D398E) and c.2180A>G (p.N727S)] were detected in the proband. The sister of the proband (also had hearing loss) has carried a heterozygous c.235delC mutation in the GJB2 gene, in addition with a heterozygous c.2180A>G(p.N727S) mutation of the OTOF gene. By Sanger sequencing, a heterozygous IVS1+2T>A mutation was further detected in the non-coding region of the GJB2 gene in both sisters. CONCLUSION The compound heterozygous c.235delC and IVS1+2T>A mutations of the GJB2 gene probably account for the hearing loss in the two sisters, among which IVS1+2T>A is considered as a novel pathogenic mutation of the GJB2 gene.
Connexins ; genetics ; DNA Mutational Analysis ; Female ; Hearing Loss, Sensorineural ; genetics ; High-Throughput Nucleotide Sequencing ; Humans ; Membrane Proteins ; genetics ; Mutation ; Pedigree

OBJECTIVETo perform mutation screening and prenatal diagnosis for a five-generation Chinese pedigree with autosomal dominant congenital nuclear cataract from Henan province by DNA sequencing.

METHODSBlood samples were taken from the family members. Four candidate genes (CRYBA1/A3, CRYBB1, CRYBB2 and CRYGD) were screened for mutations using direct sequencing. Prenatal genetic diagnosis was provided for a fetus at early gestation through chorionic villus sampling.

RESULTSA missense mutation, c.387C to A, was detected in exon 4 of the CRYBB1 gene in all of the patients. The mutation has resulted in a p.S129R transversion. The same mutation was not found in the fetus of the proband, who was confirmed to be healthy by one-year follow-up.

CONCLUSIONA missense mutation p.S129R of the CRYBB1 gene probably underlies the autosomal dominant congenital nuclear cataract in this pedigree. Detection of the mutation also facilitated prenatal genetic testing for the family.

Asian Continental Ancestry Group ; genetics ; Base Sequence ; Cataract ; congenital ; diagnosis ; genetics ; China ; DNA Mutational Analysis ; Female ; Genes, Dominant ; Genetic Counseling ; Genotype ; Humans ; Male ; Mutation ; Pedigree ; Pregnancy ; Prenatal Diagnosis ; Young Adult ; beta-Crystallin B Chain ; genetics

OBJECTIVETo analyze potential mutation in keration 9 (KRT9) gene in a large Chinese family with epidermolytic palmoplantar keratoderma (EPPK) and to perform prenatal diagnosis on the fetus at 10th gestational week.

METHODSPeripheral venous blood samples were obtained from 5 affected and 8 unaffected individuals of the family. Fifty unrelated healthy individuals were also recruited as controls. PCR was used to amplify exons 1 and 6 of KRT9 gene, and the products were sequenced directly. After the mutation was confirmed, prenatal diagnosis was performed on the fetus during the first trimester of pregnancy.

RESULTSA heterozygous missense mutation c.482A to G in the KRT9 gene, which has led to substitution of Asparaginate by Serine at codon 161 (p.N161S), was detected in all patients but not in other individuals of the family and the 50 healthy controls. The fetus was found to have carried the p.N161S mutation too. Following selected abortion, analysis of fetal tissue was consistent with prenatal diagnosis.

CONCLUSIONThe missense mutation c.482A to G (p.N161S), which has been shown previously to cause EPPK, is found in the KRT9 gene of patients in this family. Gene mutation analysis for prenatal diagnosis is efficient to facilitate detection of affected fetus in time.

Adult ; Asian Continental Ancestry Group ; genetics ; Base Sequence ; DNA Mutational Analysis ; methods ; Humans ; Keratin-9 ; genetics ; Keratoderma, Palmoplantar, Epidermolytic ; diagnosis ; genetics ; Molecular Sequence Data ; Mutation, Missense ; Pedigree ; Prenatal Diagnosis ; methods

Objective: To carry out genetic testing for a family with two pregnancies affected with hydrops fetalis and dilated cardiomyopathy (DCM) of the fetus. Methods: DNA was extracted from fetal tissue as well as peripheral blood samples from the couple. Single nucleotide polymorphism array (SNP array) and next-generation sequencing (NGS) were carried out to screen potential mutation. Suspected mutation was validated with PCR and Sanger sequencing. Results: The manifestation of fetal echocardiography was consistent with DCM. No obvious abnormality was found by SNP array analysis. A hemizygous c. 481G>A (p.G161R) mutation of the TAZ gene was detected in the male fetus by NGS and confirmed by Sanger sequencing. The mutation was inherited from his mother. Conclusion Barth syndrome due to the c. 481G>A mutation of the TAZ gene probably underlies the recurrent hydrops fetalis and fetal DCM in this family.

OBJECTIVE: To identify genetic mutations among patients with hearing loss but without common GJB2, SLC26A4, 12 SrRNA mutations. METHODS: Thirty-three patients were subjected to next-generation sequencing (NGS). Suspected mutations were verified by Sanger sequencing. RESULTS: Four patients were found to harbor previously known pathogenic variations, and four were found to carry suspicious pathogenic variations, which yielded a detection rate of 24.2%. CONCLUSION NGS can improve the detection rate for mutations underlying congenital hearing loss and improve the efficiency and accuracy of the diagnosis.
Connexins ; Deafness ; Hearing Loss, Sensorineural ; High-Throughput Nucleotide Sequencing ; Humans ; Membrane Transport Proteins ; Mutation ; Sulfate Transporters

Objective To investigate the value of prenatal diagnosis in identifying the etiology and predicting the prognosis of fetal pleural effusion (FPE).Methods Forty-two cases of FPE were recruited in this study from January 2012 to September 2016.Ultrasound scan and genetic tests were performed on all fetuses.Seven fetuses with severe FPE were given pleurocentesis.Pregnancy outcomes of all the fetuses were followed up.Results FPE was commonly accompanied with other abnormalities,such as ascites,hydrops,hydramnion,hygroma colli,abnormal posturing,joint contractures,arrhythmia and micromandible.Chromosomal abnormality was detected in 11 fetuses (26.2％),of which ten were further confirmed by karyotype analysis,including six with 45,X,three trisomy 21 and one trisomy 18,and one was detected with a 9.83 Mb uniparental disomy (UPD) located at 12q24.21q24.31 by gene chip.One fetus was diagnosed with--SEA/--SEA thalassemia.All of the 12 families decided to terminate the pregnancies after genetic counseling.Among the other 30 fetuses,seven with severe FPE and normal karyotype underwent pleurocentesis.Five of the seven cases were with favorable outcomes,one with progressive hydrops was aborted and one neonate with severe hydrops died after birth.Spontaneous regression of FPE with good outcome was found in two cases.Parents of the other 21 fetuses chose to terminate the pregnancies.Conclusions Prenatal diagnosis is important to identify the etiology and predict the outcome of FPE.Chromosomal abnormality is a relatively common cause of FPE,and 45,X and trisomy 21 are the most common abnormalities.Intrauterine intervention is beneficial for FPE without chromosomal or other definite genetic abnormalities.Genetic test may be of great value for pregnant counseling.