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Biomedical subjects

S Boussen

Publications and source records attributed to S Boussen.

9 recordsLinked to original sources
PubMed1986

[Genetic study of spinocerebellar hereditary degenerations in Tunisia. Role of consanguinity in their occurrence].

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.

Cerebellar Diseases↗
PubMed1979

P phenotype observed in two generations of Tunisian family with a high rate of inbreeding.

A p phenotype was discovered in a Tunisian woman and in three of her seven children. This paradoxical result challenges the known hypotheses on this phenotype, which generally recognise that it is determined by the existence of a very rare allele in a double dose. The computation of the coefficient of inbreeding of these subjects showed that repeated intermarriages increased the coefficient of kinship of the propositus and her husband to 0.116 (if unknown women of the ancestry were assumed to be different for each child) through 0,1362 (if unknown women of the ancestry were assumed to be the same for sibs). Therefore inbreeding was proved to be so high as to induce the presence of a recessively defined phenotype in two successive generations. Moreover, the search for probability of origin of genes of the last generation showed that the BCH ancestor was probably the carrier of the p allele.

Alleles↗