DELETION OF THE KIT AND PDGFRA GENES IN A PATIENT WITH PIEBALDISM

被引：25

作者：

SPRITZ, RA

DROETTO, S

FUKUSHIMA, Y

机构：

[1] UNIV WISCONSIN,DEPT MED GENET,MADISON,WI 53706

[2] UNIV WISCONSIN,DEPT PEDIAT,MADISON,WI 53706

[3] SAITAMA CHILDRENS MED CTR,DIV MED GENET,SAITAMA,JAPAN

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1992年 / 44卷 / 04期

关键词：

PIEBALDISM; CHROMOSOME-4; KIT; PDGFRA;

D O I：

10.1002/ajmg.1320440422

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We have previously shown that human piebaldism results from mutations of the KIT gene, which encodes the receptor for the mast/stem cell growth factor and is located in chromosome segment 4q12. Using DNA of a patient with piebaldism, mental retardation, and multiple congenital anomalies associated with a 46,XY,del(4) (q12a21.1) karyotype, we carried out quantitative Southern blot hybridization analyses of the KIT gene and the adjacent PDGFRA (platelet-derived growth factor receptor alpha subunit) genes. The patient was hemizygous for both the KIT and PDGFRA genes, indicating that both of these genes are included within the deleted region. Therefore, deletion of the KIT and PDGFRA genes may account for the piebald phenotype in this patient.

引用

页码：492 / 495

页数：4

共 37 条

[1]

BREATHNACH AS, 1988, J INVEST DERMATOL, V31, P553

[2] THE PROTO-ONCOGENE C-KIT ENCODING A TRANSMEMBRANE TYROSINE KINASE RECEPTOR MAPS TO THE MOUSE W-LOCUS [J].