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CYSTIC FIBROSIS (CF) IS A LETHAL AUTOSOMAL RECESSIVE DISEASEAFFECTING MAINLY WHITE CHILDREN.
Title: PRINCIPAL INVESTIGATOR
Phone: (512) 690-9984
CYSTIC FIBROSIS (CF) IS A LETHAL AUTOSOMAL RECESSIVE DISEASEAFFECTING MAINLY WHITE CHILDREN. THE RISK OF BEING A CARRIER OF THE CYSTIC FIBROSIS GENE IN THE WHITE POPULATION IS HIGH-APPROXIMATELY 5%. AFFECTED INDIVIDUALS WITH CYSTIC FIBROSIS CAN BE DIAGNOSED BY HIGH SWEAT CHLORIDE LEVELS WITHAPPROXIMATELY 98% RELIABILITY. HOWEVER, THOSE INDIVIDUALS WHO CARRY A SINGLE CYSTIC FIBROSIS GENE AND ARE POTENTIAL PARENTS OF CYSTIC FIBROSIS CHILDREN CANNOT BE DIAGNOSED. FOR EXAMPLE, NORMAL SIBLINGS OF CYSTIC FIBROSIS PATIENTS HAVE A 66.6% CHANCE OF CARRYING ONE OF THE DEFECTIVE GENES LEADING TO CYSTIC FIBROSIS. SUCH INDIVIDUALS AND OTHERS AREINTERESTED IN A DIAGNOSTIC TEST FOR DETECTING THE CYSTIC FIBROSIS GENE. THE COMMERCIAL APPLICATION OF DNA TECHNOLOGYTOWARD DEVELOPING A COMMERCIAL TEST FOR THE CYSTIC FIBROSIS GENE WILL BE THE LONG-TERM OBJECTIVE OF THIS PROJECT. PHASEI OF THIS PROJECT WILL IDENTIFY ONE OR MORE DNA POLYMORPH- ISMS THAT COSEGREGATE WITH THE CYSTIC FIBROSIS GENE BACAUSE OF THEIR PROXIMITY TO THE GENE ON A HUMAN CHROMOSOME. IDENTIFICATION OF SUITABLE DMA POLYMORPHISMS WILL BE USED TOSTUDY THE FEASIBILITY OF DETECTING THE SEGREGATION OF THE CFGENE IN FAMILIES FROM TEXAS, NEW YORK, AND MEXICO.
* Information listed above is at the time of submission. *