Annales de genetique最新文献_第5页

Familial high myopia: evidence of an autosomal dominant mode of inheritance and genetic heterogeneity. 家族性高度近视:常染色体显性遗传模式和遗传异质性的证据。

Annales de genetique Pub Date : 1999-01-01

L Naiglin, J Clayton, C Gazagne, F Dallongeville, F Malecaze, P Calvas

{"title":"Familial high myopia: evidence of an autosomal dominant mode of inheritance and genetic heterogeneity.","authors":"L Naiglin, J Clayton, C Gazagne, F Dallongeville, F Malecaze, P Calvas","doi":"","DOIUrl":"","url":null,"abstract":"High myopia, defined as a refractive error inferior to -6 diopters, often appears as a familial disease. In order to precise its genetic background, we performed a segregation analysis on 32 French families (320 subjects including 120 individuals with clinical data) containing at least one high myopic person in their genealogy. Under the assumption of a two-alleles single gene model, the autosomal dominant transmission mode showed a much greater likelihood than the autosomal recessive mode, which therefore was rejected. From the segregation model obtained, a two-point linkage analysis was made on 18 families (107 subjects), among the 32 used for the segregation analysis. Different candidate loci were tested: collagen genes including Stickler syndrome types 1 and 2, proteoglycan genes, Marfan 1 syndrome and a Marfan like disorder localised in 3p24.2-p25. No evidence of linkage was found with any of the studied markers. In addition, the absence of linkage with chromosome 18p11.31 markers, a locus linked to familial high myopia in 6 North American families and 1 family of Chinese descent, demonstrated the genetic heterogeneity of the disease.","PeriodicalId":7908,"journal":{"name":"Annales de genetique","volume":"42 3","pages":"140-6"},"PeriodicalIF":0.0,"publicationDate":"1999-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"21388314","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Proximal trisomy 13q and distal monosomy 8p in a dysmorphic and mentally retarded patient with an isodicentric chromosome 13q and a 13q/8p translocation chromosome. 13q染色体等双中心和13q/8p易位的畸形和智力迟钝患者的近端13q三体和远端8p单体。

Annales de genetique Pub Date : 1999-01-01

T Lukusa, L van den Berghe, E Smeets, J P Fryns

引用次数: 0

Are cells with trisomy 10 always malignant in hematopoietic disorders? 10三体细胞在造血疾病中总是恶性的吗?

Annales de genetique Pub Date : 1999-01-01

R Berger, M Busson-Le Coniat

引用次数: 0

[French Society for Human Genetics. "Genetics in Practice" Commission. Core scientific data of use in genetic counseling. Familial Mediterranean fever]. 法国人类遗传学学会。“遗传学实践”委员会。用于遗传咨询的核心科学数据。家族性地中海热]。

Annales de genetique Pub Date : 1999-01-01

C Cazeneuve, C Dode, M Delpech, I Touitou, G Grateau, S Amselem

引用次数: 0

Gastric carcinoma in Sotos syndrome (cerebral gigantism). 胃癌合并Sotos综合征(脑巨人症)。

Annales de genetique Pub Date : 1999-01-01

B Le Marec, L Pasquier, C Dugast, M Gosselin, S Odent

引用次数: 0

Linkage analysis of 5 novel van der Woude syndrome kindreds to 1q32-q41 markers further supports locus homogeneity of the disease trait. 5个新的范德伍德综合征类群与1q32-q41标记的连锁分析进一步支持了该疾病性状的基因座同质性。

Annales de genetique Pub Date : 1999-01-01

C Houdayer, V Soupre, M Rosenberg-Bourgin, H Martinez, M Tredano, D Feldmann, J Feingold, P Aymard, A Munnich, Y Le Bouc, M P Vazquez, M Bahuau

{"title":"Linkage analysis of 5 novel van der Woude syndrome kindreds to 1q32-q41 markers further supports locus homogeneity of the disease trait.","authors":"C Houdayer, V Soupre, M Rosenberg-Bourgin, H Martinez, M Tredano, D Feldmann, J Feingold, P Aymard, A Munnich, Y Le Bouc, M P Vazquez, M Bahuau","doi":"","DOIUrl":"","url":null,"abstract":"van der Woude syndrome (vWS, MIM 119300) is a rare autosomal dominant clefting condition with cardinal features of mucous cysts (lower-lip pits) and clefts to the lip and/or palate. The vWS gene has been assigned to a locus in 1q32-q41 by linkage analysis and physical mapping. We have investigated 5 novel vWS families through probands attended for cleft lip and/or palate repair at the Department of Maxillofacial Surgery of Hôpital Trousseau, Paris, in order to tentatively refine the genetic map of the vWS region in 1q32-q41 and possibly identify unlinked pedigrees. Linkage analysis was carried out to 6 microsatellite markers (D1S249, D1S425, D1S491, D1S205, D1S414, D1S425), yielding a maximum cumulative LOD score of Z = 3.27 at theta = 0.00 for D1S245. The innermost four markers were found to be tightly linked to one another, with no evidence for recombination. Our results support linkage of vWS within a region of tightly linked markers and do not favour locus heterogeneity of the disease trait.","PeriodicalId":7908,"journal":{"name":"Annales de genetique","volume":"42 2","pages":"69-74"},"PeriodicalIF":0.0,"publicationDate":"1999-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"21300159","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Novel translocation t(3;11)(p21;q24) in multiple myeloma characterised by FISH. FISH表征的多发性骨髓瘤中的新型易位t(3;11)(p21;q24)。

Annales de genetique Pub Date : 1999-01-01

A Smith, R de Lambert, L Robson

引用次数: 0

Formation of supernumerary euchromatic short arm isochromosomes: parent and cell stage of origin in new cases and review of the literature. 多生同色短臂同染色体的形成:新病例的亲本和细胞起源阶段及文献综述。

Annales de genetique Pub Date : 1999-01-01

T Eggermann, R Schubert, H Engels, C Apacik, S Stengel-Rutkowski, C Haefliger, V Emiliani, C Ricagni, G Schwanitz

{"title":"Formation of supernumerary euchromatic short arm isochromosomes: parent and cell stage of origin in new cases and review of the literature.","authors":"T Eggermann, R Schubert, H Engels, C Apacik, S Stengel-Rutkowski, C Haefliger, V Emiliani, C Ricagni, G Schwanitz","doi":"","DOIUrl":"","url":null,"abstract":"In order to get insight in the formation of isochromosomes we analysed different supernumerary euchromatic short arm isochromosomes for the parent and cell stage of origin. After cytogenetic detection and confirmation by fluorescence-in-situ hybridization we performed short tandem repeat typing in a child with i(9p), three with i(12p) and three with i(18p). The extra chromosomes were monocentric in each case, the i(9p) and i(12p) constitutions were found in mosaic with normal cell lines. Our results and those of other groups indicate a strong role of maternal meiosis in isochromosome formation: in one i(8p), 4 out of 5 i(9p), 7 out of 12 i(12p) and 18 out of 23 i(18p) families a maternal meiotic nondisjunction had occurred prior to the centromere misdivision. For chromosome 18, the majority of isochromosomes originated from a maternal meiosis II error (16/18). For the other tetrasomic constitutions the isochromosomes could be delineated from paternal as well as from maternal origin, the short tandem repeat typing patterns being consistent with meiotic or mitotic cell stages of formation. Thus, independently of the chromosomal origin, in the majority of cases with additional euchromatic isochromosomes maternal meiosis nondisjunction is the initial step followed by centromeric misdivision. Postzygotic nondisjunction as suggested previously due to mosaics observed in tetrasomies 9p and 12p seems to be of minor importance. The observed origin of isochromosomes 18 corresponds to that of trisomy 18, where the majority of cases can be delineated from maternal meiosis II errors.","PeriodicalId":7908,"journal":{"name":"Annales de genetique","volume":"42 2","pages":"75-80"},"PeriodicalIF":0.0,"publicationDate":"1999-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"21300160","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Double telomeric signals on single chromatids revealed by FISH and PRINS. FISH和PRINS在单个染色单体上发现的双端粒信号。

Annales de genetique Pub Date : 1999-01-01

C Philippe, P Coullin, A Bernheim

引用次数: 0

[French Society for Human Genetics. "Genetics in Practice" Commission. Core scientific data of use in genetic counseling. Hemochromatosis]. 法国人类遗传学学会。“遗传学实践”委员会。用于遗传咨询的核心科学数据。血色沉着病)。

Annales de genetique Pub Date : 1999-01-01

J Yaouanq, J Feingold, D Lacombe

引用次数: 0