Delezoide A L, Vekemans M
Service d'Histologie, Embryologie et de Cytogénétique, Groupe Hospitalier Necker-Enfants Malades, Paris, France.
Biomed Pharmacother. 1994;48(8-9):335-9. doi: 10.1016/0753-3322(94)90047-7.
The use of chromosomal segments with conserved homologous linkage groups found in different species provides one method of predicting the location of genes causing congenital malformations in man. For example, homology between man and mouse involves 241 homologous autosomal genes spread on 68 homologous chromosomal segments. In addition, the similarities of phenotypic expression of human congenital malformations and mouse mutations indicate the possible involvement of an homologous gene implicated during ontogeny of the two species. The identification of a single gene defect in the mouse and comparative mouse-human gene mapping provides therefore another approach for selecting candidate loci for inborn error of morphogenesis in man. Further molecular studies can then be performed to show that the loci are identical. The human Waardenburg syndrome and the splotch (Sp) mouse mutant represent the first example of the potential of this approach for the understanding of human congenital malformations at the molecular level.
利用在不同物种中发现的具有保守同源连锁群的染色体片段，提供了一种预测导致人类先天性畸形的基因位置的方法。例如，人类和小鼠之间的同源性涉及分布在68个同源染色体片段上的241个同源常染色体基因。此外，人类先天性畸形和小鼠突变在表型表达上的相似性表明，在这两个物种的个体发育过程中，可能涉及一个同源基因。因此，鉴定小鼠中的单个基因缺陷并进行比较性的小鼠-人类基因图谱分析，为选择人类形态发生先天性缺陷的候选基因座提供了另一种方法。然后可以进行进一步的分子研究，以证明这些基因座是相同的。人类瓦登伯格综合征和斑点（Sp）小鼠突变体代表了这种方法在分子水平上理解人类先天性畸形潜力的第一个例子。
