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Klinische Wochenschrift

, Volume 69, Issue 24, pp 1152–1155 | Cite as

Identification of a splice mutation at the adenine phosphoribosyltransferase locus in a German family

  • B. S. Gathof
  • A. Sahota
  • U. Gresser
  • J. Chen
  • P. J. Stambrook
  • J. A. Tischfield
  • N. Zöllner
Originals

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.

Key words

APRT deficiency Molecular genetics Mutation Polymerase chain reaction (PCR) 

Abbreviations

APRT

adenine phosphoribosyltransferase

DHA

2,8-dihydroxyadenine

PCR

polymerase chain reaction

PP-ribose-P

5-phosphoribosyl-1-pyrophosphate

RFLP

restriction fragment length polymorphism

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Copyright information

© Springer-Verlag 1991

Authors and Affiliations

  • B. S. Gathof
    • 1
  • A. Sahota
    • 2
  • U. Gresser
    • 1
  • J. Chen
    • 2
  • P. J. Stambrook
    • 3
  • J. A. Tischfield
    • 2
  • N. Zöllner
    • 1
  1. 1.Medizinische Poliklinik der Universität MünchenDeutschland
  2. 2.Department of Medical and Molecular GeneticsIndiana University School of MedicineIndianapolisUSA
  3. 3.Department of Anatomy and Cell BiologyUniversity of Cincinnati College of MedicineCincinnatiUSA

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