Gs. Zubenko et al., LACK OF VARIATION IN THE NUCLEOTIDE-SEQUENCE CORRESPONDING TO THE TRANSMEMBRANE DOMAIN OF THE BETA-AMYLOID PRECURSOR PROTEIN IN ALZHEIMERS-DISEASE, American journal of medical genetics, 48(3), 1993, pp. 131-136
The nucleotide sequence corresponding to the APP transmembrane domain
and flanking regions of charged amino acids was determined for 91 pati
ents with histologically confirmed Alzheimer's disease, 9 patients wit
h dementias of other etiologies, and 14 controls who had no identifiab
le brain disease. Twenty-eight of the AD patients had a first-degree r
elative with dementia. No mutations were detected among the 100 dement
ed patients. However, one of the 14 controls exhibited a change in the
3' base of codon 716 which would not be expected to result in an amin
o acid substitution at this position. (C) 1993 Wiley-Liss, Inc.