Identification of Novel Biomarkers and Elucidation of the Molecular basis of phenotypic features of Fanconi Anemia using Microarray analysis
Rama Shanker Verma,
Professor,
Indian Institute of Technology Madras
The total number of people suffering from FA has not been documented worldwide. Scientists estimate that the carrier frequency (people carrying a defect in one copy of a particular FA gene, while the other copy of that same FA gene is normal) for FA in the United States of America is 1 in 181. The incidence rate, or the chance of an offspring being born with FA, is about 1 in 131,000 in the U.S., with approximately 31 children born with FA each year. Fanconi anemia has been reported in all ethnic groups. However, due to founder effects, the heterozygote frequency is greater in South African Afrikaners, sub-Saharan blacks , and Spanish gypsies than in the general world population. The expected birth rates in these ethnic groups are around 1 case per 40,000 births. The carrier frequency is about 1 case per 90 people for the Ashkenazi Jews in the United States. The male-to-female ratio is 1.2:1, though equal numbers are predicted in a disorder with over 99% autosomal recessive inheritance. Fanconi anemia has been diagnosed in patients from birth to 49 years, with a median age of 7 years. Individuals with birth defects are diagnosed at younger ages when compared to those without any birth defects.
We have done microarray of 8 Indian FA patients and study their pattern of gene disregulation. Our data showed the variation in the gene expression patterns amongst the various sub type but most the patients exhibited cytopenia due to defective stem cell survival system.
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