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用fISH技术分析一例表型异常的染色体平衡易位

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中华医学遗传学杂志 2001年第2期18卷 96-99页

作者：朱冠山 Oliver Bartsch 万谟彬 Gabriele Gillessen-Kaesbach Eberhard Passarge 上海第二军医大学附属长海医院 200433 institut für Klinische Genetik TU DresdenUniversitatsklinikum institut für humangenetik Universitatsklinikum Essen

目的　应用荧光原位杂交技术对 1例染色体结构异常患者进行分析 ,阐明结构异常性质 ,并精细定位断点。方法　对一先天表型异常经细胞遗传学检查有 t(5 ;10 )的病例 ,分别选用 5号染色体探针池以及用酵母人工染色体作为 DNA来源制备的断... 详细信息

目的　应用荧光原位杂交技术对 1例染色体结构异常患者进行分析 ,阐明结构异常性质 ,并精细定位断点。方法　对一先天表型异常经细胞遗传学检查有 t(5 ;10 )的病例 ,分别选用 5号染色体探针池以及用酵母人工染色体作为 DNA来源制备的断点区位点特异性探针 ,进行荧光染色体原位杂交。结果证实患者染色体异常属平衡易位 ,并将 5号和 10号染色体的断点分别定位到 1.5 Mb及约 3Mb的范围。结论　患者的先天性表型异常可能由断点处染色体细微重排或致病基因断裂所致。

关键词：荧光原位杂交染色体结构异常先天性发育不良诊断

Positional Information Storage in Sequence Patterns

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Computational Molecular Bioscience 2013年第2期3卷 18-26页

作者： Alexey A. Shadrin Andrei Grigoriev Dmitri V. Parkhomchuk Biology Department Center for Computational and Integrative Biology Rutgers University Camden USA fachbereich Mathematik und Informatik Freie Universitat Berlin Berlin Germany institut für Medizinische Genetik und humangenetik der Charité—Universitatsmedizin Berlin Berlin Germany

We build a model of storage of well-defined positional information in probabilistic sequence patterns. Once a pattern is defined, it is possible to judge the effect of any mutation in it. We show that the frequency of beneficial mutations can be high in general and the same mutation can be either advantageous or deleterious depending on the pattern’s context. The model allows to treat positional information as a physical quantity, formulate its conservation law and to model its continuous evolution in a whole genome, with meaningful applications of basic physical principles such as optimal efficiency and channel capacity. A plausible example of optimal solution analytically describes phase transitions-like behavior. The model shows that, in principle, it is possible to store error-free information on sequences with arbitrary low conservation. The described theoretical framework allows one to approach from novel general perspectives such long-standing paradoxes as excessive junk DNA in large genomes or the corresponding G- and C-values paradoxes. We also expect it to have an effect on a number of fundamental concepts in population genetics including the neutral theory, cost-of-selection dilemma, error catastrophe and others.

关键词： Information Theory Sequence Pattern Genetic Information Conservation Typical Set

携带有5;13染色体平衡易位基因的父子所患的营养不良性大疱性表皮松解症与ErBB2IP基因断裂无关

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世界核心医学期刊文摘（皮肤病学分册） 2006年第8期2卷 12-13页

作者： Stefanova M. Zemke K. Dimitrov B. K. Kutsche 任建文 institut für humangenetik Universittsklinikum Hamburg-Eppendorf Butenfeld 42 D-22529 Hamburg Germany Dr.

Mutations in the type VII collagen gene (COL7A1) cause autosomal recessive and autosomal dominant inherited dystrophic epidermolysis bullosa (DEB). We report a family with three individuals who present blistering, scarring, hypo- and hyperpigmentation, and nail dystrophy suggestive for *** father and son carry a 5;13 translocation, the daughter shows a normal karyotype. Segregation analysis revealed that all affected family members inherited the same COL7A1 allele. Mutation analysis disclosed a heterozygous missense mutation, c.6227G > A (p.G2076D), in COL7A1 in all affected individuals. Delineation of the translocation breakpoints showed that the ErBB2IP (erbb2 interacting protein or Erbin) gene is disrupted in 5q13.1 and GPC6 in 13q32. GPC6 encodes glypican 6 belonging to a family of cell surface heparan sulfate proteoglycans. The binding partners of Erbin,BP230 (BPAG1)- and the integrin β 4 subunit, both involved in hemidesmosome (HD) function, and the presence of Erbin in HD suggested that it plays a role in establishment and maintenance of cell-basement membrane adhesions. However, loss of function of one ErBB2IP copy or expression of a putative novel ErBB2IP fusion protein did not apparently modulate the DEB phenotype in both translocation patients. Nonetheless, one cannot yet exclude that ErBB2IP is a candidate for human blistering disorders such as epidermolysis bullosa.

关键词：营养不良性大疱性表皮松解症染色体平衡易位基因断裂父子常染色体显性 I型胶原基因 COL7A1 家系成员错义突变甲营养不良

德国家族性ALS:奠基者效应引发超氧化物歧化酶(SOD1)突变的r115G基因起源

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世界核心医学期刊文摘（神经病学分册） 2005年第1期1卷 22-23页

作者： Niemann S. Joos H. Meyer T. 李源 institut für humangenetik Justus Liebig UniversittSchlangenzahl 14 D-5392 Giessen Germany Dr.

Mutations in the gene encoding Cu/Zn superoxide dismutase (SOD1) account for approximately 20% of patients with familial amyotrophic lateral sclerosis (fALS). In this study, sequence analysis of exons 1 5 of SOD1 in a large German cohort with fALS was performed. Among 75 affected patients, who were not obviously related probands with a positive family history, nine had missense mutations in SOD1. four of the nine probands carry the samer115G mutation in exon 4 of the SOD1 gene. Genotyping with markers from the SOD1 locus revealed a common haplotype and shared allelic characteristics in these patients. These findings suggest that the r115G mutation in the German population originates from a common founder.

关键词： ALS r115G基因 SOD1 奠基者效应基因突变族性家族病史编码区基因位点标记技术

Qf-PCr as a molecular-based method for autosomal aneuploidies detection

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Advances in reproductive Sciences 2013年第3期1卷 21-28页

作者： reham Moftah Salah Marzouk Dalal El-Kaffash raymonda Varon Christiane Bommer Mohsen Karbasiyan Heidemarie Neitzel institut für Medizinische Genetik und humangenetik Charite-Universitatsmedizin BerlinCampus Virchow KlinikumAugusten-burger Platz 1BerlinGermany Clinical Pathology Department Faculty of MedicineAlexandria UniversityAlexandriaEgypt Alexandria regional Center for Woman Health and Development AlexandriaEgypt

Objectives: The currently available methods for rapid prenatal diagnosis of common chromosomal aneuploidies are either Interphase-fluorescence in Situ Hybridisation (I-fISH) or Quanti- tative fluorescent Polymerase Chain reaction (Qf-PCr). Qf-PCr represents a rapid, high throughput, cost-effective alternative for Interphase-fISH. The objective of the study was to evaluate the performance of Qf-PCr, as a molecular-based technique for the detection of chromosome 21, 18 and 13 copy numbers. Study design: A retrospective cohort of 163 samples referred for screening of common chromosomal aneuploidies was blindly tested for chromosome 21, 18 and 13 copy numbers using Qf-PCr and the results were compared with those of conventional cytogenetic analysis. results: Qf-PCr demonstrated optimal sensitivity and specificity (100%) for non mosaic trisomies. Qf-PCr was able to consistently detect maternal cell contamination and mosaic trisomies when the trisomic cell line was present at an adequate level (23% or more). However, Qf-PCr was unable to detect chromosomal rearrangements for which the primers were not designed. Conclusion: Qf- PCr proved its superior performance as a molecular-based method for autosomal aneuploidy detection concerning both sensitivity and specificity.

关键词： rapid Prenatal Diagnosis Autosomal Aneuploidies Qf-PCr

用fISH技术分析一例表型异常的染色体平衡易位

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肝脏 2001年第S1期6卷 98-页

作者：朱冠山 Oliver Bartsch 万谟彬 Gabriele Gillessen-Kaesbach Eberhard Passarge 上海第二军医大学附属长海医院 institut fur Klinische Genetik TU DresdenUniversitatsklinikumFescherstrasse7401307 DresdenGermany institut fur humangenetik Universitatsklinikum EssenHufelandstrasse5545122 EssenGermany institut