Diagnosis of familial amyloidotic polyneuropathy by recombinant DNA techniques.
Diagnosis of familial amyloidotic polyneuropathy by recombinant DNA techniques.
复制标题
通过重组 DNA 技术诊断家族性淀粉样变性多发性神经病。
DOI：
10.1016/0006-291x(84)90586-2
复制
发表时间：
1984
影响因子：
3.1
通讯作者：
Yasuyuki Takagi
中科院分区：
文献类型：
--
作者：
H. Sasaki;Yoshiyuki Sakaki;H. Matsuo;I. Goto;Y. Kuroiwa;I. Sahashi;Akira Takahashi;Tomotaka Shinoda;Takashi Isobe;Yasuyuki Takagi
血浆前白蛋白第30位Met取代Val与家族性淀粉样多发性神经病(FAP)密切相关。作为建立诊断该病的直接方法的第一步，我们克隆了正常人前白蛋白的基因，并测定了其核苷酸序列。我们的结果表明，导致Val→Met变化的核苷酸替换导致了BALI和NsiI新的限制酶切位点的形成。通过Southern杂交分析，在患者的前白蛋白基因座上确实检测到了预期的限制性内切酶位点。因此，开发了一种对该病进行症状前和产前诊断的方法。
An amino acid substitution of Met for Val at position 30 of plasma prealbumin is known to be closely related to heredo-familial amyloidotic polyneuropathy (FAP). As a first step in development of a direct method for diagnosis of the disease, cDNA for normal human prealbumin was cloned and its nucleotide sequence was determined. Our results showed that the nucleotide substitution responsible for the Val→ Met change results in formation of new restriction sites for BalI and NsiI. By Southern blot hybridization analysis, the expected restriction sites were actually detected in the prealbumin locus of patients. Thus, a method was developed for diagnosis of the disease presymptomatically and prenatally.
人类癌基因家族的染色体分配。
DOI：
10.1073/pnas.80.14.4460
发表时间：
1983
影响因子：
11.1
作者：
Ryan,J;Barker,PE;Shimizu,K;Wigler,M;Ruddle,FH
通讯作者：
Ruddle,FH
影响因子：
15.9
作者：
SARAIVA, MJM;BIRKEN, S;GOODMAN, DS
通讯作者：
GOODMAN, DS