Mutations in the LPL gene show high levels of allelic heterogeneity between and within different populations. Complete LPL deficiency has a very high prevalence in French Canadians, where only three missense mutations account for > 97% of cases, most consistent with founder mutations introduced early in Quebec by French immigrants. In order to determine whether these mutations were present in F...

BACKGROUND There is growing interest in the CYP2D6 gene because of its key role in the metabolism of numerous commonly used drugs. AIM We compared the frequency of the most frequent null CYP2D6 alleles (CYP2D6*3, CYP2D6*4,CYP2D6*5, CYP2D6*6, CYP2D6*7 and CYP2D6*8) between individuals from the Spanish population and from La Alpujarra. SUBJECTS AND METHODS The present study comprises Spanish ...

GL183 or EB6 (p58) molecules have been shown to function as receptors for different HLA-C alleles and to deliver an inhibitory signal to natural killer (NK) cells, thus preventing lysis of target cells. In this study, we analyzed a subset of NK cells characterized by a p58-negative surface phenotype. We show that p58-negative clones, although specific for class I molecules do not recognize HLA-...

cystic fibrosis (cf) is the most common inherited disorder in caucasian populations, with over 1400 cystic fibrosis transmembrane conductance regulator (cftr) mutations. the type of mutations and their distributions varies widely between different countries and/or ethnic groups. seventy iranian cystic fibrosis patients were screened for the cftr gene mutation using arms/pcr (amplification refra...

results no significant correlation was seen in rs3743527 and rs129081 polymorphism’s allelic and genotypic frequencies between the patient group and control individuals (p value > 0.05). the average frequencies of rs129081 g and c alleles was 40 (58%) and 29 (42%), respectively. in our sample the average frequencies of rs3743527 c and t alleles, were 41 (61%) and 28 (39%), respectively. the res...

Background: A diverse set of transcripts called 185/333 is strongly expressed in sea urchins responding to immune challenge. Optimal alignments of full-length 185/333 cDNAs requires the insertion of large gaps that define 25 blocks of sequence called elements. The presence or absence of individual elements also defines a specific element pattern for each message. Individual sea urchins were cha...