[Identification of a novel pathogenic mutation in MATP gene with oculocutaneous albinism type IV from a consanguineous marriage family]

Zhonghua Yi Xue Za Zhi. 2012 Jan 31;92(4):254-8.
[Article in Chinese]

Abstract

Objective: To clarify the pathogenicity-related genes and its mutations in an oculocutaneous albinism (OCA) patient from a consanguineous marriage family.

Methods: Polymerase chain reaction (PCR) and automatic DNA sequencing methods, chromosome walking by PCR amplification techniques (PCR-Walking), multiplex PCR in a single PCR tube with 3 primers bridging the breakpoint (Gap-PCR) and bioinformatic analysis were employed for screening the mutations and identifying the novel mutation in the patient and his family.

Results: A pathogenic deletion of 6365 bp was found in MATP gene with a range of c.562-1118 (± 2) to c.885 + 4923 (± 2). The patient was homozygous for deletion mutation.

Conclusion: A large deletion mutation was first detected and identified in OCA4.

Publication types

  • English Abstract
  • Research Support, U.S. Gov't, Non-P.H.S.

MeSH terms

  • Adult
  • Albinism, Oculocutaneous / genetics*
  • Antigens, Neoplasm / genetics*
  • Base Sequence
  • Case-Control Studies
  • Consanguinity*
  • Female
  • Humans
  • Male
  • Membrane Transport Proteins / genetics*
  • Pedigree
  • Sequence Deletion*

Substances

  • Antigens, Neoplasm
  • Membrane Transport Proteins
  • SLC45A2 protein, human