HEREDITAS ›› 2005, Vol. 27 ›› Issue (6): 984-988.
• 专论与综述 • Previous Articles Next Articles
DUAN Hong-Lei1,ZHENG Hui2,LI Hong-Yi1
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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.
CLC Number:
R758.5+4
DUAN Hong-Lei, ZHENG Hui, LI Hong-Yi. Mutations and Polymorphisms of the P Gene[J]. HEREDITAS, 2005, 27(6): 984-988.
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