REGIONAL AND PHYSICAL MAPPING STUDIES CHARACTERIZING THE GREIG POLYSYNDACTYLY 3-7-CHROMOSOME TRANSLOCATION, T(3-7)(P211-P13)
REGIONAL AND PHYSICAL MAPPING STUDIES CHARACTERIZING THE GREIG POLYSYNDACTYLY 3-7-CHROMOSOME TRANSLOCATION, T(3-7)(P211-P13)
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DOI：
10.1016/0888-7543(89)90275-9
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发表时间：
1989-05-01
期刊：
影响因子：
4.4
通讯作者：
TOMMERUP, N
中科院分区：
文献类型：
--
作者：
DRABKIN, H;SAGE, M;TOMMERUP, N
Greig多并指-颅面畸形综合征是一种常染色体显性遗传疾病，涉及位于条带7 p13的基因。我们已经分离和特点的相互3;7染色体易位，导致综合征。我们已经确定了两个紧密相连（0 cM）的保守DNA序列（P137/p944 B）的侧翼易位断裂点。脉冲场分析与可获得的遗传连锁信息相结合证明该病症与T-γ连锁（2cM）。受体基因座，贷款相当大的支持假设，即小鼠突变的额外脚趾是对应的格雷格综合征。我们没有发现EGF受体与P137/p944 B区域物理联系的证据，这与小鼠的连锁关系也是一致的。der（3）染色体从3;7易位的分离，使我们能够区域定位探针内的3p21.1带。对于三个探针通常用于杂合性实验与人类癌症涉及3号染色体，我们已经确定，从着丝粒到端粒的顺序是D3 S3，D3 S2，和DNF 15 S2。我们的脉冲场研究还表明，在评估连锁关系的带密度差异结合部分的randomsts的效用。P137/p944 B探针在检查与Greig综合征具有表型相似性的其他遗传性疾病中应该是有用的。
The Greig polysyndactyly-craniofacial anomalies syndrome is an autosomal dominant disorder involving a gene(s) located in band 7p13. We have isolated and characterized a reciprocal 3;7 chromosome translocation that resulted in the syndrome. We have identified two closely linked (0 cM) conserved DNA sequences (P137/p944B) that flank the translocation breakpoint. A pulsed-field analysis combined with available genetic linkage information demonstrates that the disorder is linked (2 cM) to the T-.gamma. receptor locus, lending considerable support to the hypothesis that the mouse mutant extra-toes is the counterpart of the Greig syndrome. We have found no evidence that physically links the EGF receptor to the P137/p944B region, again compatible with mouse linkage relationships. The isolation of the der(3) chromosome from the 3;7 translocation has allowed us to regionally localize probes within the 3p21.1 band. For three probes commonly used in heterozygosity experiments with human cancers involving chromosome 3, we have determined that the order from centromere to telomere is D3S3, D3S2, and DNF15S2. Our pulsed-field studies also demonstrate the utility of band density differences combined with partial digests in evaluating linkage relationships. The P137/p944B probes should be useful in examining other hereditary disorders with phenotypic similarities to the Greig syndrome.