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HEREDITAS ›› 2005, Vol. 27 ›› Issue (6): 984-988.

• 专论与综述 • Previous Articles     Next Articles

Mutations and Polymorphisms of the P Gene

DUAN Hong-Lei1,ZHENG Hui2,LI Hong-Yi1   

  1. Department of Medical Genetics, Zhongshan Medical College,SunYat-sen University,Guangzhou 510089,China
  • Received:2004-11-12 Revised:2005-02-05 Online:2005-12-10 Published:2005-12-10
  • Contact: LI Hong-Yi1

Abstract: Oculocutaneous albinism typeⅡ(OCA2), the most common type of albinism, is an autosomal recessive disorder. It is caused by mutations in the P gene, which is located on chromosome 15q11.1-q12 and divided into 24 exons and 23 introns. P gene codes for 838-amino-acid integral membrane protein with 12 putative transmembrane domains, but the exact function is not clear yet. There are at least 60 pathologic mutations and 43 non-pathologic polymorphisms have been found. Pathologic mutations include missense mutations, nonsense mutations, frameshift mutations and splice-sit mutations. But unlike TYR gene, most of P gene mutations are located on the C-terminal and don′t cluster in defined regions. It is difficult to define the pathologic mutations since many non-pathologic polymorphisms also lie in exons. Some non-pathologic missense mutations may be associated with phenotypic variation in normally pigmented individuals and need to further study.

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