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人类一个发育基因的染色体定位:直接DNA分析表明,Greig头多指(趾)畸形基因定位于7p13。

Chromosomal localisation of a developmental gene in man: direct DNA analysis demonstrates that Greig cephalopolysyndactyly maps to 7p13.

作者信息

Brueton L, Huson S M, Winter R M, Williamson R

机构信息

Division of Inherited Metabolic Disease, Northwick Park Hospital, Harrow, Middlesex, United Kingdom.

出版信息

Am J Med Genet. 1988 Dec;31(4):799-804. doi: 10.1002/ajmg.1320310412.

Abstract

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; O = theta).

摘要

Greig头多指(趾)综合征(GCPS)是一种罕见的常染色体显性复杂多指(趾)畸形。基于两个家族中该病症与涉及7号染色体短臂(7p13)的平衡易位相关联,GCPS被初步定位到7号染色体上。对7个无染色体异常的GCPS家系进行了研究,结果表明GCPS与编码表皮生长因子受体的DNA序列(定位于7p12 - 13)之间存在连锁关系(Z = 3.17;O = θ)。

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