LOCALIZATION OF CRANIOSYNOSTOSIS ADELAIDE TYPE TO 4P16

被引：45

作者：

HOLLWAY, GE

PHILLIPS, HA

ADES, LC

HAAN, EA

MULLEY, JC

机构：

[1] WOMENS & CHILDRENS HOSP,CTR MED GENET,DEPT CYTOGENET & MOLEC GENET,ADELAIDE,SA 5006,AUSTRALIA

[2] WOMENS & CHILDRENS HOSP,CTR MED GENET,DEPT MED GENET & EPIDEMIOL,ADELAIDE,SA 5006,AUSTRALIA

[3] UNIV ADELAIDE,DEPT PAEDIAT,ADELAIDE,SA,AUSTRALIA

来源：

HUMAN MOLECULAR GENETICS | 1995年 / 4卷 / 04期

基金：

英国医学研究理事会;

关键词：

D O I：

10.1093/hmg/4.4.681

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

Craniosynostosis Adelaide type is a rare autosomal dominant syndrome associated with digital abnormalities. Linkage mapping was carried out excluding allelism to Saethre-Chotzen syndrome at 7p21, craniosynostosis Boston type at 5q34-q35, Jackson-Weiss and Crouzon syndromes at 10q24-q25 and Pfeiffer syndrome mapping near Been. Exclusion mapping was extended to the entire genome until linkage to chromosome 4 was detected. A maximum two-point lod score of 6.2 (theta = 0.0) was obtained with D45412, The gene responsible for craniosynostosis Adelaide type was localized to 4p16, telomeric to D4S394. This region contains two plausible candidate genes, the MSX1 (HOX7) homeobox gene and the FGFR3 fibroblast growth factor receptor gene.

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页码：681 / 683

页数：3

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