Prenatal diagnosis and carrier detection of a cryptic translocation by using DNA markers from the short arm of chromosome 5.
Prenatal diagnosis and carrier detection of a cryptic translocation by using DNA markers from the short arm of chromosome 5.
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DOI：
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发表时间：
1989-08
影响因子：
9.8
通讯作者：
J. Overhauser;U. Bengtsson;J. McMahon;J. Ulm;M. G. Butler;L. Santiago;John J. Wasmuth
中科院分区：
文献类型：
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作者：
J. Overhauser;U. Bengtsson;J. McMahon;J. Ulm;M. G. Butler;L. Santiago;John J. Wasmuth
来自5号染色体短臂的DNA标记被用来检查一个大家庭，在这个大家庭中，一个显微镜下无法检测到的易位正在分离。除了确认三个发育迟缓儿童是5p14远端基因的半合子外，这些分析还确定了五个人是平衡易位的携带者。分子探针的使用第一次为这家人提供了知情的遗传咨询。用5P的DNA标记对两例胎儿绒毛标本进行产前诊断，发现这两例标本的染色体核型均不平衡。易位携带者的鉴定由于5P的小片段与正常同源物上相应区域的重组而变得复杂，这改变了5P易位片段的单倍型。
DNA markers from the short arm of chromosome 5 were used to examine a large family in which a microscopically undetectable translocation was segregating. In addition to confirming that three retarded children were hemizygous for loci distal to 5p14, these analyses identified five individuals as being carriers of the balanced translocation. The use of molecular probes provided informed genetic counseling to the family for the first time. With the DNA markers from 5p, prenatal diagnosis was performed on two fetal chorionic villus samples, both of which were found to have unbalanced karyotypes. The identification of translocation carriers was complicated by recombination between the small translocated segment of 5p and the corresponding region on the normal homologue, which changed the haplotype of the translocated 5p segment.