The human gene for alkaptonuria (AKU) maps to chromosome 3q

Journal Article · Sat Jan 01 00:00:00 EST 1994 · Genomics; (United States)

DOI:https://doi.org/10.1006/geno.1994.1003· OSTI ID:6574071

Janocha, S; Wolz, W; Grimm, T; Kress, W; Mueller, C R ^[1]; Srsen, S; Srsnova, K ^[2]; Montagutelli, X; Guenet, J L ^[3]

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1. Univ. of Wuerzburg, Biozentrum (Germany)
2. Komensky Univ., Kalinciakova (Czech Republic)
3. Institut Pasteur, Paris (France)

Alkaptonuria (AKU; McKusick no. 203500) is a rare autosomal recessive disorder caused by the lack of homogentisic acid oxidase activity. Patients excrete large amounts of homogentisic acid in their urine and a black ochronotic pigment is deposited in their cartilage and collagenous tissues. Ochronosis is the predominant clinical complication of the disease leading to ochronotic arthropathy, dark urine, pigment changes of the skin, and other clinical features. A mutation causing alkaptonuria in the mouse has mapped to chromosome 16. Considering conserved synteny, the authors were able to map the human gene to chromosome 3q in six alkaptonuria pedigrees of Slovak origin. 22 refs., 3 figs., 1 tab.

• OSTI ID: 6574071
• Journal Information: Genomics; (United States), Vol. 19:1; ISSN 0888-7543
• Country of Publication: United States
• Language: English

Related Subjects

59 BASIC BIOLOGICAL SCIENCES
HUMAN CHROMOSOME 3
GENETIC MAPPING
OXIDOREDUCTASES
METABOLIC DISEASES
CHROMOSOMES
DISEASES
ENZYMES
HUMAN CHROMOSOMES
MAPPING
ORGANIC COMPOUNDS
PROTEINS
550400* - Genetics