[ABSTRACTS—-FIRST INTERNATIONAL CONFERENCE 287
[COSEGREGATION BETWEEN D2i S11 EcoRT ALLELES AND THE PAD (FAMILIAL ALZHEIMER'S
DISEASE) GENE IN A PEDIGREE
IF. DAVID and G. LUCOTTE, Laboratory of Molecular Genetics, INTS, 6 rue
Alexandre Cabanel, Paris 15éme, France
Segregation study of Alzheimer's disease (AD) gene and a cloned DNA probe
(D21 S11), which detects an BooRT restriction fragment length polymorphism ( RFLP:
for a sequence located in the medial part (in situ hybridization experiments
jare presented) of the long arm of chromosome 21, are reported in a large cala~
lorian pedigree (Italian and french branchs} in which AD is transmitted as an
lautosomal dominant mendelian trait.
In this pedigree, the AD gene cosegregates with one of the alternative
Jalleles at the probe (B = 1.9 EcoRI kb allele), raising the possibility of usage
lof such a marker for presymptomatic diagnosis of the fourth and five's genera~
Jtions pedigree individuals at -risk for the disease.
calculated lod-score, using an age-~dependant model, are :
& | 0 0.05 0.10 0-15 0.20025 0.30
Ppa i | Oe Oe Ce
Lod-score is low, at @= 0, but70. It is the first tine that we obtained
Jan evidence of cosegregation in this family, between a polymorphic DNA marker
Jand the FAD gene. In the past incompatibilities in cosegregations.was noted
lwith other markers of the chromosome 21, like : D21 83, ETS2, SOD-1 and
€ -amyloid probes.
Professor Dr. Rer. Nat. Jörg-Peter Ewert (Auth.) - Neuroethology - An Introduction To The Neurophysiological Fundamentals of Behavior-Springer-Verlag Berlin Heidelberg (1980)