国际皮肤性病学杂志    2001 27 (2): 86-88   ISSN: 2096-5540  CN: 32-1880/R   P基因的研究进展 王红综述, 刘维达审校 中国医学科学院、中国协和医科大学皮肤病研究所 收稿日期 null  修回日期 null  网络版发布日期 null 参考文献  [1] Rinchik EM,Bultman SJ,Horsthemke B,et al.A gene for the mouse pink-eyed dilution locus and for human type Ⅱ oculocutaneous albinism.Nature,1993,361(6407):72-76. [2] Ramsay M,Colman MA,Stevens G,et al.The tyrosinase-positive oculocutaneous albinism locus maps to chromosorme 15qll.2 ～ q12.Am J Hum Genet,1992,51(4):879-884. [3] Gardner JM,Nakatsu Y,Gondo Y,et al.The mouse pink-eyed dilution gene:association with human Prader-Willi and Angelman Synjromes.Science,1992,257(5073):1121-1124. [4] Lee ST,Nicholls RD,Jong MT,et al.Organization and sequence of the human P gene and identification of a new family of transport proteints.Genomics,1995,26(2):354-363. [5] 0etting WS,Gardner JM,Fryer JP,et al.Mutation of the human P gene association with type Ⅱ oculocutaneous albinism(OCA2).Mutations in brief no.205,online.Hum Mutat,1998,12(6):434. [6] Sviderskaya EV,Bennett DC,Ho L,et al.Complementation of hypopigmentation in pmutant(pink-eyed dilution)mouse melanocytes by normal human P cDNA,and defective conplementation by OCA2 mutant se qences.J Invest Dermatol,1997,108(1):30-34. [7] Rosemblat ST,Durham-Pierre D,Gardner JM,et al.Identification of a melanosomal membrane protein encoded by the pink-eyed dilution(type Ⅱoculocutaneous albinism)gene.Proc Natl Acad Sci USA,1994,91(25):12071-12075. [8] Gahl WA,Potterf B,Durham-Pierre D,et al.Melanosomal tyrosine transport in normal and pink-eyed dilution murine melanocytes.Pigment Cell Res,1995,8(5):229-233. [9] Durham-Pierre D,Gardner JM,Nakatsu Y,et al.African origin of an intragenic deletion of the human P gene in tyrosinase-positive oculocutaneous albinism.Nat Genet,1994,7(2):176-179. [10] Puri N,Durham-Pierre D,Aquaron R,et al.Type Ⅱ Oculocutaneous albinism(OCA2) in Zimbabwe and Cameroon:distribution of the 2.7-kb deletion allele of the P gene.Hum Genet,1997,100(5-6):651-656. [11] Stevens G,Ramsay M,Jenkins T,et al.Oculocutaneous albinism(OCA2) in sub-Saharan Africa:distribution of the commo n 2.7-Kb P gene deletion mutation.Hum Genet,1997,99(4):523-527. [12] Lee ST,Nicholls RD,Sehnur RE,et al.Diverse mutations of the P gene among African-Americans with type Ⅱ(tyrosinase-positive) oculocutaneous albinism(OCA2).Hum Mol Genet,1994,3(11):2047-2051. [13] Lee ST,Nicholls RD,Bumdey S,et al.Mutations of P gene in oculocutaneous albinism,ocular,albinism and Prader-Willi svndrome plus albinism.N Engl J Med,1994,330(8):529-534. [14] Kerr R,Stevens G,Manga P,et al.Identification of P gene Mutations in individuals with oculocutaneous albinism in Sub-Saharan Africa.Hum Mutat,2000,15(2):166-172. 通讯作者: