Prenatal diagnosis of familial amyloidotic polyneuropathy: evidence for an early expression of the associated transthyretin methionine 30.
Prenatal diagnosis of familial amyloidotic polyneuropathy: evidence for an early expression of the associated transthyretin methionine 30.
复制标题
家族性淀粉样变性多发性神经病的产前诊断：相关转甲状腺素蛋白蛋氨酸 30 早期表达的证据。
DOI：
10.1007/bf00193586
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发表时间：
1990
期刊：
影响因子：
5.3
通讯作者：
Saraiva,MJ
中科院分区：
文献类型：
--
作者：
Almeida,MR;Alves,IL;Sakaki,Y;Costa,PP;Saraiva,MJ
与家族性淀粉样多发性神经病相关的甲状腺素运载蛋白甲硫氨酸30（TTR Met 30）起源于TTR基因第二外显子的单碱基取代（A取代G）。这种常染色体显性遗传病可以通过NsiI消化DNA的RFLP分析来诊断。通过PCR扩增DNA改进了诊断方法，使其适用于产前诊断。应用PCR扩增DNA对两例高危胎儿进行产前诊断。平行处理对照Met 30和正常DNA（基因组DNA或通过定点诱变产生的DNA）。通过与等位基因特异性寡核苷酸探针杂交进行诊断，随后通过筛查羊水中的突变蛋白，并在可能的情况下，在新生儿血清中进行确认。TTR Met 30在阳性胎儿的羊水中检测到，其父亲是突变携带者。这表明突变蛋白在发育的早期就表达了。
Transthyretin methionine 30 (TTR Met 30), which is associated with familial amyloidotic polyneuropathy, originates in a single base substitution (A for G) in the second exon of the TTR gene. This autosomal dominant disease can be diagnosed by RFLP analysis ofNsiI-digested DNA. The amplification of DNA by PCR improves the diagnosis method, making it suitable for prenatal diagnosis. Using PCR-amplified DNA, prenatal diagnosis of two at-risk fetuses was performed. Control Met 30 and normal DNA (either genomic or produced by site directed mutagenesis) were processed in parallel. The diagnosis was made by hybridization with allele-specific oligonucleotide probes, and later confirmed by screening of the mutant protein in the amniotic fluid and, when possible, in the sera from the newborns. TTR Met 30 was detected in the amniotic fluid of a positive fetus whose father was the carrier of the mutation. This indicates that the mutant protein is expressed very early in development.