CHROMOSOMAL LOCALIZATION OF A DEVELOPMENTAL GENE IN MAN - DIRECT DNA ANALYSIS DEMONSTRATES THAT GREIG CEPHALOPOLYSYNDACTYLY MAPS TO 7P13
CHROMOSOMAL LOCALIZATION OF A DEVELOPMENTAL GENE IN MAN - DIRECT DNA ANALYSIS DEMONSTRATES THAT GREIG CEPHALOPOLYSYNDACTYLY MAPS TO 7P13
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DOI：
10.1002/ajmg.1320310412
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发表时间：
1988-12-01
期刊：
影响因子：
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通讯作者：
WILLIAMSON, R
中科院分区：
文献类型：
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作者：
BRUETON, L;HUSON, SM;WILLIAMSON, R
Greig 头多指并指综合征 (GCPS) 是一种罕见的常染色体显性遗传形式的复杂多指畸形，根据该病症与两个家族中涉及 7 号染色体短臂 (7p13) 的平衡易位的相关性，GCPS 暂时被归属于 7 号染色体。研究了七个没有染色体异常的GCPS谱系，并证明了GCPS和编码表皮生长因子受体的DNA序列(定位于7p12-13)(Z＝3.17；0＝Ω)之间的连锁。
Greig cephalopolysyndactyly syndrome (GCPS) is a rare autosomal dominant form of complex polydactyly GCPS has been tentatively assigned to chromosome 7 on the basis of association of the condition with balanced translocations involving the short arm of chromosome 7 (7p13) in two families. Seven GCPS pedigrees with no chromosome abnormality were studied, and linkage was demonstrated between GCPS and the DNA sequence coding for the receptor for epidermal growth factor (localised to 7p12-13) (Z = 3.17; 0 = .omega.).