A three-base-pair deletion in the peripherin-RDS gene in one form of retinitis pigmentosa.

The group of retinopathies termed retinitis pigmentosa (RP) greatly contribute to visual dysfunction in man with a frequency of roughly 1 in 4,000. We mapped the first autosomal dominant RP (adRP) gene to chromosome 3q, close to the gene encoding rhodopsin, a rod photoreceptor pigment protein. Subsequently, mutations in this gene have been implicated as responsible for some forms of adRP. Another adRP gene has been mapped to chromosome 8p. A third adRP gene in a large Irish pedigree has been mapped to chromosome 6p, showing tight linkage with the gene for peripherin, a photoreceptor cell-specific glycoprotein, which is thus a strong candidate for the defective gene. We have now identified a three-base-pair deletion which results in the loss of one of a pair of highly conserved cysteine residues in the predicted third transmembrane domain of peripherin. This deletion segregates with the disease phenotype but is not present in unaffected controls, and suggests that mutant peripherin gives rise to retinitis pigmentosa.     

Mutations in the human retinal degeneration slow gene in autosomal dominant retinitis pigmentosa.

The murine retinal degeneration slow (rds) gene is a semidominant mutation with a phenotype having rod and cone photoreceptors that develop abnormally and then slowly degenerate. The phenotype is a possible model for retinitis pigmentosa, one of the scores of hereditary human retinal degenerations, which is also characterized by photoreceptor degeneration. We report here three mutations of the human homologue of the rds gene (RDS) that cosegregate with autosomal dominant retinitis pigmentosa in separate families. Our results indicate that some cases of autosomal dominant retinitis pigmentosa are due to mutations at the RDS locus.     

视网膜色素变性家系遗传分析及基因诊断

通过对一常染色体显性视刚膜色素变性(RP)家系的连锁分析.发现致病基因与RP4连锁,进一步对RHO基因的突变检测,发现RHO的Pro347Leu突变是该家系的遗传基础,运用该结果对家系中2个年幼个体进行了基因诊断,和其他RHO突变引起的RP病人相比.该家系具有发病年龄早,部分成员伴发白内障的独特症状.     

A point mutation of the rhodopsin gene in one form of retinitis pigmentosa

The gene for autosomal dominant retinitis pigmentosa in a large pedigree of Irish origin has recently been found to be linked to an anonymous polymorphic sequence, D3S47 (C17), from the long arm of chromosome 3. As the gene coding for rhodopsin is also assigned to the long arm of chromosome 3 and is expressed in rod photoreceptors that are affected early in this blinding disease, we searched for a mutation of the rhodopsin gene in patients with autosomal dominant retinitis pigmentosa. We found a C----A transversion in codon 23 (corresponding to a proline----histidine substitution) in 17 of 148 unrelated patients and not in any of 102 unaffected individuals. This result, coupled with the fact that the proline normally present at position 23 is highly conserved among the opsins and related G-protein receptors, indicates that this mutation could be the cause of one form of autosomal dominant retinitis pigmentosa.     

Generation of nonhuman primate retinitis pigmentosa model by in situ knockout of RHO in rhesus macaque retina

Retinitis pigmentosa (RP) is a form of inherited retinal degenerative diseases that ultimately involves the macula,which is present in primates but not in the r...     

Regular steps in bending cilia during the effective stroke.

A ciliary beat cycle consists of an effective stroke in which the extended cilium makes an oar-like movement towards one side, and a recovery stroke in which the cilium moves back by propagating a bend from base to tip (Fig. 1A). In the sliding microtubule model of ciliary and flagellar movement, which is now supported by substantial evidence1-3, the sliding displacement of microtubules in any region of the cilium is related linearly to the angular change in the direction of that region (Fig. 1B). Thus, during the effective stroke, microtubule sliding is not confined to the region near the base of the cilium but involves the whole length of the extended organelle, and the relative speed of sliding can be measured as the angular velocity of the ciliary motion. I report here that in molluscan cilia the effective stroke consists of regularly alternating rapid and slow phases of angular movement. This suggests that the microtubules slide in quantal steps.     

鼻内窥镜下鼻窦鼻息肉手术78例临床观察

目的观察鼻内窥镜下进行鼻窦鼻息肉手术的临床疗效。方法治疗组78例采用鼻内窥镜下对鼻窦鼻息肉患者行手术治疗,对照组49例采用常规方法进行鼻窦鼻息肉进行手术,术后均随访1年。结果治疗组与对照组比较治愈率有明显提高(P<0.05)。结论鼻内窥镜下鼻窦鼻息肉手术治疗具有良好的疗效。提高鼻内窥镜手术操作技术以及术后综合处理是提高鼻内窥镜手术疗效的两个重要环节。     

Bacteriophages inhibit degradation of abnormal proteins in E. coli.

On infection of Escherichia coli cells by bacteriophages T4, T5 or T7, the degradation of E. coli protein fragments and abnormal proteins is inhibited. Normal E. coli proteins, however, continue to be degraded at their usual rates. T4 early proteins (s) is needed to inhibit the turnover of abnormal proteins in T4-infected E. coli cells.     

异常黑胆质型哮喘维吾尔医特色疗法疗效观察

 观察维吾尔医特色疗法治疗异常黑胆质型哮喘患者的疗效。2012 年3 月-2013 年10 月,将新疆医科大学第一附属医院呼吸科门诊及病房内确诊为异常黑胆质型哮喘患者共75 例随机方法分为治疗组(n=38)和对照组(n=37)。治疗组为西医常规治疗基础上加用维吾尔医特色疗法,对照组则为单纯西医常规治疗,两组患者均接受一个疗程(1 个月)治疗。在治疗前与治疗后1 个月观察记录两组患者临床症状、体征,并进行哮喘日夜症状评分、哮喘控制测试(ACT)评分以及成人哮喘患者生存质量(AQLQ)评分。治疗后1 个月,两组患者哮喘症状得以控制者分别为91.9%和94.8%,差异无统计学意义(P>0.05);与治疗前相比,两组患者哮喘日夜症状评分及ACT 评分均有改善,差异有统计学意义(P<0.05),但在治疗后1 个月,两组患者间哮喘日夜症状评分及ACT 评分差异无统计学意义(P>0.05)。与治疗前比较,两组患者治疗后AQLQ 各项评分均有提高(P<0.05)。在治疗后1 个月,治疗组在活动受限、心理状况、对刺激源的反应、对自身健康的关心方面显著高于对照组,差异有统计学意义(P<0.05)。西医联合维吾尔医特色疗法在改善哮喘症状控制、ACT 评分及哮喘日夜症状评分上,与单纯西医治疗无显著差异。但是,西医联合维吾尔医特色疗法治疗异常黑胆质型哮喘在活动受限、心理状况、对刺激源的反应、对自身健康的关心方面的生活质量的提高改善显著,有一定的优势。