ISSN:
1432-1440
Keywords:
APRT deficiency
;
Molecular genetics
;
Mutation
;
Polymerase chain reaction (PCR)
Source:
Springer Online Journal Archives 1860-2000
Topics:
Medicine
Notes:
Summary We examined the molecular basis of adenine phosphoribosyltransferase (APRT) deficiency in homozygous-deficient, identical twin brothers who were born to non-consanguineous German parents. DNA was isolated from blood, and the APRT gene was amplified by PCR, subcloned into M13, and sequenced completely. A single T insertion between bases 1831–1832 or 1832–1833 was identified. This alters the consensus sequence at the exon 4 — intron 4 splice donor site and leads to aberrant splicing. The same mutation has been described previously in two affected brothers from Belgium, and the Indianapolis group has also identified it in two other, unrelated Caucasian patients. Thus, this mutation may be a common cause of APRT deficiency in the Caucasian population.
Type of Medium:
Electronic Resource
URL:
http://dx.doi.org/10.1007/BF01815434
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