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Rapid detection methods for five HGO gene mutations causing alkaptonuria
Author(s) -
Zatkova A,
Chmelikova A,
Polakova H,
Ferakova E,
Kadasi L
Publication year - 2003
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1034/j.1399-0004.2003.00027.x
Subject(s) - alkaptonuria , ochronosis , heteroduplex , mutation , genetics , restriction site , microbiology and biotechnology , gene mutation , missense mutation , biology , gene , medicine , restriction enzyme , pathology
Alkaptonuria (AKU) is an autosomal recessive disorder caused by the deficiency of homogentisate 1,2 dioxygenase ( HGO ) activity. The disease is characterized by homogentisic aciduria, ochronosis and ochronotic arthritis. AKU shows a very low prevalence (1:250 000), in most ethnic groups. Altogether 43 HGO mutations have been identified in approximately 100 patients. In Slovakia, however, the incidence of this disorder rises up to 1:19 000, and 10 different AKU mutations have been identified in this relatively small country. Here, we report detection methods developed for rapid identification of five HGO mutations. PCR primers were designed enabling detection of mutations IVS5 + 1G→A, R58fs, and V300G by restriction digestion of amplification‐created restriction sites (ACRS). Mutation G152fs is readily identified by heteroduplex analysis, and G161R by amplification refractory mutation system (ARMS) PCR.