Use of D11S2179 and D11S1343 markers as informative markers for prenatal diagnosis in Iranian ataxia-telangiectasia patients

Ataxia-telangiectasia is an autosomal recessive disorder affecting 1/40000 to 1/100000 of reported populations. There is 25% possibility for having an affected child when parents are carriers for ATM gene mutation. There is no cure available for this disease and prenatal testing is strongly recommended to prevent this disease. Although preferred method is the direct mutation analysis of ATM gene, but large size of the ATM gene with 63 exons and the large number of possible mutations in patients considerably limit efficiency of mutation analysis as a choice in diagnosis. Indirect method is a better tool when parents are not carriers of founder mutation and pass different mutations to their children. Indirect molecular diagnosis using ATM related molecular markers facilitates prenatal diagnosis of AT children. In this study, four molecular markers: D11S2179, D11S1787, D11S535, D11S1343 are genotypes in 12 unrelated families [19 patients] from different regions of Iran. Those markers are amplified using extracted sequence primers from Gene Bank with their described PCR conditions. The amplified products were separated using denaturing PAGE gels, and the data were analyzed to detect their pattern of inheritance in each family. In all families, segregation of alleles were according to mandelian inheritance and affected chromosomes were distinguishable from unaffected ones. All carriers and affected patients were diagnosed accurately. Thus, this method is effectively usable in prenatal diagnosis of ataxia telangiectasia

Vitamin C status in allergic children

This study was undertaken to assess vitamin C status in allergic children. Twenty-six allergic patients and 46 apparently healthy controls aged 7-16 years of both sexes were introduced. All patients were diagnosed being allergic based on their histories, physical examinations and laboratory findings. Blood samples were obtained between 09.00-11.00 to determine total serum immunoglobulin E, histamine, plasma vitamin C and complete blood cell count. Stool examinations and urinealysis were also done. Although total serum immunoglobulin E levels were significantly higher in patients than in controls, the serum histamine and plasma vitamin C levels showed no significant difference between the two groups. Surprisingly, patients with allergic dermatitis and food allergy had significantly lower plasma vitamin C levels than patients with asthma and rhinitis. Also, female patients tended to have higher plasma vitamin C but lower total serum immunoglobulin E levels compared to the male patients but none of these differences were significant. Healthy boys, on the other hand, had significantly higher plasma vitamin C than healthy girls. Our findings did not confirm the previous reports which showed decreased plasma vitamin C levels in allergic patients. We concluded that the plasma vitamin C levels in different allergies might be infuenced by such factors, such as sex, type and the stage of allergic disease, besides those affecting intake