ABSTRACT
Ataxia telangiectasia (AT) is an autosomal recessive disorder with an estimated prevalence of 1/40,000 to 1/100,000 in reported populations. There is a 25% possibility for having an affected child when parents are carriers for the ATM gene mutation. There is no cure available for this disease and prenatal testing is strongly recommended for prevention of this disease. Although the preferred method is the direct mutation analysis of the ATM gene, the 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 diagnostic choice. 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 genotyped in 19 unrelated families from different regions of Iran. Those markers are amplified using extracted sequence primers from the Gene Bank with their described PCR conditions. Amplified products were separated using denaturing PAGE gels, and data were analyzed to detect their pattern of inheritance in each family. In all families, segregation of alleles was according to Mendelian inheritance, and affected chromosomes were distinguishable from unaffected ones. All carriers and affected patients were diagnosed accurately. Thus, this method is effectively useful in prenatal diagnosis of AT.
Subject(s)
Ataxia Telangiectasia/diagnosis , Ataxia Telangiectasia/genetics , Cell Cycle Proteins/genetics , DNA-Binding Proteins/genetics , Genetic Markers , Prenatal Diagnosis/methods , Protein Serine-Threonine Kinases/genetics , Tumor Suppressor Proteins/genetics , Alleles , Ataxia Telangiectasia Mutated Proteins , Child , DNA Mutational Analysis/methods , Exons/genetics , Haplotypes , Heterozygote , Humans , Iran , Mutation , Polymerase Chain ReactionABSTRACT
BACKGROUND AND PURPOSE: Atopic dermatitis (AD) is a common skin condition. The aim of this study was to evaluate the impact of AD on the quality of life of children or adults and to identify the area of patients' lives most affected by the disease. METHODS: Eighty six patients with AD who were referred to an immunology clinic and 98 patients (>4 years old) attending a general clinic acting as controls (without any chronic or severe disease) participated in this survey. A physician filled the Children's Dermatology Life Quality Index (CDLQI) questionnaire for 4-16 year old children and the Dermatology Life Quality Index (DLQI) questionnaire for individuals more than 16 years via face-to-face interview. RESULTS: There were significant differences between the mean of CDLQI score and DLQI score in case and control groups (p<0.001). For children and adults with AD, the mean score of each question was significantly higher than in the control group (p<0.001). CONCLUSIONS: This study agreed with previous findings that AD has a major impact on physical well-being. The individuals dealing with AD and their families need more than just the physical treatment of symptoms. Educational and psychological support for patients and their families in addition to medical treatment of AD may improve their long-term physical outcomes.
