HANS BERNHARD, text
genetics , binary; sequences
genetic sequences
mailaise
K12 / CHROMOSOME 12 [three a syndrome]
comment:
Allgrove syndrome (three A syndrome)
is a rare autosomal recessive hereditary disease
characterized by adrenal insufficiency which is refractory to ACTH treatment,
absence
of tearing, achalasia and autonomous neuropathy.
In 1996, a study of 22 affected subjects and their families confirmed the localization
of
the gene responsible for Allgrove syndrome to a 6 cM interval on the long arm
of
chromosome 12, at 12q13.
In a study of a consanguinous population from North Africa, the critical genetic
region
was reduced from 6 to 0 cM at locus D12S1604; there was complete linkage
disequilibrium between a rare allele of marker AFMa189yd9 and the AAA locus,
and
a probable founder effect was detected. Scanning of a PAC library using the
microsatellite marker in complete linkage disequilibrium permitted selection
of a PAC
containing part or all of the gene. This
is a collaborative project for sequencing the
PAC insert which is estimated to be 66 kb.
the rules of the International Union of Pure and Applied Chemistry (IUPAC)):
A = adenine, C = cytosine, G = guanine,
T = thymine
U = uracil, R = G A (purine), Y = T C (pyrimidine)
K = G T (keto), M = A C (amino)
S = G C, W = A T
B = G T C, D = G A T, H = A C T, V = G C A
N = A G C T (any)
source: dna sequence formats
copyright 2002 HANS BERNHARD