CLINICAL DIAGNOSTIC KIT FOR INHERITED BLOOD DISORDERS

INHERITED BLOOD DISORDERS ARE PROBABLY THE MOST COMMON SINGLE GENE DISORDER. IN THE PAST 20 YEARS, THE APPLICATIONOF RECOMBINANT DNA TECHNOLOGY TO STUDIES OF SOME COMMON INHERITED BLOOD DISORDERS HAS DRAMATICALLY INCREASED UNDERSTANDING OF THE MOLECULAR MECHANISMS OF THESE DISEASES AND PROVIDED NEW METHODS FOR DIAGNOSIS. THEREFORE, IT IS POSSIBLE TO INITIATE A SCREENING PROGRAM FOR THESE INHERITEDBLOOD DISORDERS IN GENERAL POPULATIONS USING MOLECULAR GENETIC TECHNIQUES. THE STANDARD DNA SAMPLING METHOD-DNA EXTRACTED FROM WHOLE BLOOD-HOWEVER, DOES NOT MEET THE REQUIREMENTS OF MASS MOLECULAR SCREENING BECAUSE OF THE LIMITATIONS IMPOSED BY TRANSIT TIME AND SAMPLE SIZE OF USING WHOLE BLOOD SPECIMENS,PARTICULARLY SAMPLES FROM INDIVIDUALS WHO ARE CULTURALLY OR GEOGRAPHICALLY ISOLATED. MOREOVER, THE STANDARD DNA EXTRACTION PROCEDURE IS TIME CONSUMING AND LABOR INTENSIVE FOR A MASS SCREENING PROGRAM. THIS PROJECT SEEKS TO EXPLOIT RECENT ADVANCES IN DNA AMPLIFICATION WITH POLYMERASE CHAIN REACTION AND DNA MICROEXTRACTION TECHNIQUES FROM DRIED BLOOD SPOTS TO DEVELOPA SIMPLE, RAPID, AND NONEXTRACTED DNA SAMPLING KIT THAT WILLPROVIDE A NEW RESOURCE FOR THE DIAGNOSIS AND SCREENING OF INHERITED BLOOD DISORDERS. THE KIT WILL ALSO GREATLY SIMPLIFY SPECIMEN COLLECTION AND TRANSPORT. EVENTUALLY THISNEW TECHNOLOGY MAY BE APPLIED TO LARGE-SCALE SCREENING AT THE DNA LEVEL.