[Genetic analysis of a Chinese pedigree with split hand and foot malformation].

OBJECTIVE: To analyze the clinical manefestation and genetic basis of split hand and foot malformation (SHFM) in a Chinese pedigree. METHODS: The affected people in the family were checked by X-rays. Eighteen patients provided their peripheral blood, and the genomic DNA of the samples was extracted. The linkage and haplotype analysis were carried out using the microsatellite markers, and the limb malformation related gene Dactylin (DAC) including the coding region, exon-intron boundaries and part of promoter region was sequenced. RESULTS: Most members of the family with the disease phenotype showed absence or hypoplasia of the index finger, and absence or 3-4 syndactyly of the middle finger. The degree of abnormality in feet was severer than that in hands. All phenotypes of the patients display the basic characters of SHFM. Since the maximum two point LOD score of the D10S192 was 3.50 (theta=0.00), the SHFM in this pedigree can be categorized to the SHFM3. The haplotype analysis of recombination events revealed the candidate locus to a 21cM region between D10S185 and D10S1693. No mutation was found by the sequencing result of DAC gene. CONCLUSION: Through the analysis of phenotype of the patients, the typical SHFM disease can be confirmed. The linkage and haplotype analysis demonstrated that the 21cM region in 10q23-q26 locus was the major cause to the disease in this pedigree. The mutation of DAC gene can be excluded from cause of SHFM3 phenotype.

[Mutation analysis of 12S rRNA and tRNA-Ser(UCN) genes in a large Chinese family with maternally inherited nonsyndromic hearing loss by intermarriage].

OBJECTIVE: To identify the possible mutation at possible sites in different mitochondrial genes that leads to hearing loss in a large Chinese pedigree. METHODS: Blood samples from a Hunan pedigree were obtained with informed consent. Genomic DNA was extracted from peripheral blood leukocytes using kit. The target fragments were amplified and detected by polymerase chain reaction (PCR) and directly sequencing respectively. RESULTS: The result of direct sequencing revealed the A1555G mutation in 12S rRNA gene was inherited in this pedigree and no one has A7445G mutation or other mutations in its neighborhood region. CONCLUSION: Sequence analysis confirmed that the pedigree carries the A1555G mutation. With some members ever exposure of aminoglycoside antibiotics, mutation of A1555G may play a pivotal role in the pathogenesis of hearing loss in the large pedigree.

Effect of multi-channel health education model by professional team on self-management of patients with inflammatory bowel disease / 中华消化杂志

Objective:To explore the effect of multi-channel health education model by professional team on drug compliance, disease knowledge and recurrence in rate of inflammatory bowel disease (IBD) patients, so as to provide basis for formulating scientific health education measures.Methods:From February 2016 to February 2019, IBD patients visited First Affiliated Hospital of Kunming Medical University were selected. According to whether they received health education, the patients were divided into intervention group (100 cases) and control group (138 cases). Morisky medication adherence scale-8 (MMAS-8) and Chinese version of Crohn′s and colitis knowledge score (CCKNOW) were used to evaluate treatment compliance and disease knowledge. The score of MMAS-8, the proportion of poor drug compliance, CCKNOW score and recurrence rate at 48 weeks of follow-up were compared between the intervention group and control group. Two sample t test and chi-square test were used for statistical analysis. Results:The total scores of MMAS-8 and CCKNOW of the intervention group were both higher than those of the control group (5.58±1.96 vs. 4.47±1.44, 10.87±4.21 vs. 9.23±4.65), and the differences were statistically significant ( t=-5.06 and -2.79, both P<0.05). The proportion of patients with poor drug compliance and recurrence rate at 48 weeks of follow up of the intervention group were both lower than those of the control group (56.0%, 56/100 vs. 86.2%, 119/138; 20.0%, 20/100 vs. 31.9%, 44/138), and the differences were statistically significant ( χ2=38.18 and 4.17, both P<0.05). Conclusions:Multi-channel health education by professional team can effectively improve the drug compliance and disease knowledge in IBD patients, improve patient self-management ability, and reduce the recurrence rate.

[Mutation detection of COL1A1 gene in a pedigree with osteogenesis imperfecta].

Osteogenesis imperfecta (OI) is heritable bone fragility,which is inherited as an autosomal dominant trait clinical presentation. Clinical symptom, in general, is dominantly inherited OI with blue sclerae, hearing loss and mild-moderate skeletal deformity. Genetic loci of OI have been mapped to17q21.31-q22 and 7q22.1, in which COL1A1 and COL1A2 are known to be the causal genes. In this work,we performed linkage analysis in a kindred with autosomal dominant hereditary OI. A tight linkage to the markers on chromosome 17q21.31-q22 (maximum two-point lod score: 9.31 at theta = .00) was observed. Sequence analysis of COL1A1 revealed a single-base mutation that converted the consensus sequence at the 5' end of intron 26 from GT to AT to form an abnormal splicing site leading to OI.

[A family with nonsyndromic hearing impairment caused by intermarry].

Deafness is the most prevalent sensory system impairment in human, about 70 % of genetic deafness belongs to nonsyndromic hearing impairment. It was estimated that the total number of genes involved in nonsyndromic hereditary deafness was over 100. So far, approximate 80 loci have been mapped to human chromosome, and 23 genes have been identified. In this paper, a family with nonsyndromic hearing impairment caused by intermarry was reported. There were 13 sufferers in two generations. Deduced from genetic analysis, neither autosomal dominant nor autosomal recessive inheritance was identified in this family, which suggested that hearing impairment in the family was probably caused by mitochondrial mutations.

[Genetic analysis of a Chinese pedigree with congenital synpolydactyly].

Syndactyly is a limb malformation that shows a characteristic manifestation in both hands and feet. This condition is inherited as an autosomal dominant trait with reduced penetrance. Clinical presentation, in general, is complete or partial webbing between 3rd and 4th fingers. Syndactyly type I, II and III were mapped to 2q34-36, 2q31-q32 and 6q21-23.2 respectively. Syndactyly type II is named as synpolydactyly (SPD). Expansion of a polyalanine tract in the HOXD13 gene is known to cause synpolydactyly. HOXD13 gene locates in the HoxD complex. Nine homologous genes (HOXD1, -D3, -D4, -D8, -D9, -D10, -D11, -D12, -D13) of HoxD complex locate on chromosome 2 in the order of HOXD1 to HOXD13, among which HOXD13 is closest to the centromere. Deletions and duplications in HoxD complex or its upstream regulator factors have been identified to cause hand heteroplasia and consequently lead to abnormity of finger number or abnormity of configuration. We performed linkage analysis in a kindred with autosomal dominant hereditary syndactyly. Tight linkage to markers on chromosome 2q31-q32 (maximum two-point lod score: 6.78 at recombination fraction theta = 0.00) was observed. Multipoint linkage analysis produced a maximum LOD score of 7.02. Haplotype construction and analysis of recombination events narrowed this locus to a 20.61 cM region between markers D2S2302 and D2S315. No mutation was found in the coding region, the intro-exon boundaries, or part of the promoter region of HOXD13. Our result demonstrates that synpolydactyly locus in the Chinese Han Population is in the region of chromosome 2q31-q32 but a different causal gene can be involved.