TY - JOUR
T1 - Diagnosis of familial amyloidotic polyneuropathy by recombinant DNA techniques
AU - Sasaki, H.
AU - Sakaki, Y.
AU - Matsuo, H.
AU - Goto, I.
AU - Kuroiwa, Y.
AU - Sahashi, I.
AU - Takahashi, A.
AU - Shinoda, T.
AU - Isobe, T.
AU - Takagi, Y.
N1 - Funding Information:
library, to Dr. K. Shigesada for a gift of cloning vectors, and to Dr. A. Nakashima for supplying samples of patients' blood. Oligonucleotides ware kindly synthesized by Dr. S. Tanaka, Suntory Institute for Biomedical Research and Japan Scientific Instrument Co., Ltd. We also thank Dr. R.G. Roeder for cants on the manuscript and Miss H. Hamadaf or assistance in preparation of the manuscript. This work was supported by grants from the Ministry of Education, Science and Culture, and the Ministry of Health and Welfare of Japan.
PY - 1984/12/14
Y1 - 1984/12/14
N2 - 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.
AB - 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.
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U2 - 10.1016/0006-291X(84)90586-2
DO - 10.1016/0006-291X(84)90586-2
M3 - Article
C2 - 6549130
AN - SCOPUS:0021673047
SN - 0006-291X
VL - 125
SP - 636
EP - 642
JO - Biochemical and Biophysical Research Communications
JF - Biochemical and Biophysical Research Communications
IS - 2
ER -
