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M Ben Hamida H Chaabouni S Madani S Boussen S Samoud F Letaief A Mrabet F Hentati N Miladi 《Journal de génétique humaine》1986,34(3-4):267-274
The genetic analysis of 101 genealogical trees of families with spinocerebellar heredo-degeneration enabled the authors to specify the transmission inheritance for each clinical type. Autosomic recessive transmission has been observed for Friedreich's ataxia (68 out of 69 families), Pierre-Marie's heredo-ataxia (15 families) and familial spastic paraplegia (2 families). A dominant mode of transmission has been observed in 13 families affected by familial spastic paraplegia (Strumpell-Lorrain) and in only one family with Friedreich's ataxia (an intermediate or incomplete form). It has also been observed that the consanguinity rate among this group of families is very high compared with that of the general tunisian population (25%). Marriage between cousins occurs in 75% of the cases of Friedreich's ataxia, in 78% of the cases of Pierre-Marie's heredo-ataxia and in only 61% of familial spastic paraplegia of Strumpell-Lorrain. The authors have come to the conclusion that the recessive autosomic transmission of the spino-cerebellar heredo-degenerative diseases are closely related to a high consanguinity rate. 相似文献
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B. Fontaine Sophie Nicole Haluk Topaloglu C. Ben Hamida Peter Beighton Frank Spaans Jose M. A. Cantu Salim Bakouri Norma Romero K. Ricker Patricio Barros-Nunez Gérard Ponsot M. Ben Hamida Jean Weissenbach F. Hentati Frank Lehmann-Horn 《Human genetics》1996,98(3):380-385
Schwartz-Jampel syndrome (SJS), or chondrodystrophic myotonia, is a rare autosomal recessive disorder characterized by generalized
myotonia resulting in a particular, recognizable facies and osteoarticular abnormalities. Some of us have recently shown genetic
linkage of SJS to a locus on 1p34–p36.1 in five families. Here, we show by homozygosity mapping and segregation analysis that
eight new families are most likely linked to the SJS locus on chromosome 1, confirming the localization of SJS to chromosome
1p and suggesting genetic homogeneity. Recombination events reduced the SJS locus from a genetic interval of 8 to 3 cM, which
should facilitate the identification of the SJS gene. Low clinical variability was observed between the studied families,
except for osteoarticular abnormalities. Since the severity and the location of osteoarticular abnormalities varied from one
individual to another, even in the same families, other factors than the SJS gene itself, genetic or epigenetic, might contribute
to the phenotype.
Received: 11 February 1996 / Revised: 6 April 1996 相似文献