La drépanocytose homozygote, fait partie des hémoglobinopathies les plus fréquentes au Maroc. La drépanocytose est caractérisée par une grande variabilité d’expressions clinique et biologique qui dépendent des facteurs génétiques modulateurs et environnementaux. Elle se manifeste par une anémie régénérative de gravité très variable selon les individus. L’évolution spontanée en l’absence de trai...

A family is described in which Friedreich's ataxia occurred in two generations. It is proposed that this resulted from a homozygote-heterozygote mating. The heterozygote frequency for the Friedreich's ataxia gene is in the order of 1 in 110, so the likelihood of the disease developing in an individual child of a patient is 1 in 220. This risk is probably higher than that often assumed when coun...

Objectives The potential risk factors of amyloidosis are known as ethnic origin (Jewish, Armenian, Turkish, and North African origin), non-usage of colchicines, and family history. Various investigators suggest that M694V mutation, especially homozygote pattern, is a risk factor for amyloidosis. In literatures reported from Turkey, it is stated that there is only a limited association. In this ...

CODING SEQUENCE: Human aldolase B gene (ALDOB). The gene is a single copy and its chromosomal location is 9q21.3-q32 MENDELIAN INHERITANCE: Demonstrated in one family. The mother and the son are heterozygotes, whereas the father is a homozygote. OTHER COMMENTS: Hereditary fructose intolerance is due to a lack of aldolase B activity in liver. Although we observed no 2.3 kb homozygotes, no sign o...

A bnormal variants of plasma cholinesterase (ChE, EC. 3.1.1.8) are a rarity in this region and to date there is no reported case of suxamethonium sensz#vity in the Malaysian population. We now report a case of a Malaysian Indian patient who received suxamethonium, developed prolonged apnoea and on investigation was found to be a homozygote for the silent gene. His family was screened for abnorm...

Abstract Background Endometrial cancer is one of the most common female reproductive system tumors. Ninjurin2 ( NINJ2 ) a new adhesion factor. As vascular susceptibility gene, it highly expressed in other cancers and promotes growth cells. We conducted an association analysis between gene polymorphism endometrial risk. Methods Five SNPs rs118050317, rs75750647, rs7307242, rs10849390 rs11610368 ...

The numbers of kinetosomes in ciliary rows on the ventral surface of cells of Tetrahymena pyriformis, syngen 1, are greater by about 10% in young heterozygotes established by crossing two inbred strains than in either homozygote. The difference, apparent at 20 fissions post-fertilization, is essentially gone by 100 fissions. This observation is consistent with a generalized "allelic exclusion" ...