Where is the alkaptonuria gene and why is the disease unique in genetics (the study of heredity)?
The gene for alkaptonuria has been mapped to chromosome number 3 in the region of bands 3q21- q23. The gene for the enzyme homogentisate 1,2-dioxygenase (HGD) has been found to map to exactly the same location. A human gene known as the HGO gene has proven to be synonymous with HGD. And, most importantly, it is now quite clear that alkaptonuria is due to mutations at this genetic locus (spot) on chromosome 3. Alkaptonuria enjoys the historic distinction of being one of the conditions for which recessive inheritance was first proposed. This prescient proposal was made in 1902 by the English physician Archibald Garrod, later Sir Archibald. In a series of brilliant lectures in 1908 Garrod set forth the charter group of what he called “inborn errors of metabolism.” The 4 conditions he labeled as inborn errors were albinism, cystinuria, pentosuria and, of course, alkaptonuria. Alkaptonuria is also known as homogentisic acid oxidase deficiency. Alkaptonuria At A Glance • Alkaptonuria is a ra
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- Where is the alkaptonuria gene and why is the disease unique in genetics (the study of heredity)?
