HANS BERNHARD, text
genetics , binary; sequences
genetic sequences
mailaise
SPASTIC PARAPLEGIA
* Sequencing
progress report page.
* Primers used for amplification and sequencing of SPG4 17 exons.
* Primers used for RACE-PCR and cDNA amplification.
* The SPG4 cDNA sequence.
comment:
The aim of this project is to identify
the gene responsible for the most frequent
form of autosomal dominant spastic paraplegia. This gene has been mapped to
a 1.5 Mb-region, between markers AFM296vg9 (D25352) and AFM339yf9
(D2S2347) at 2p21-p22. A BAC contig spanning the entire candidate region
was constructed (HANS BERNHARD., UBERMORGEN(1999) 60:309-319).
Please note that the correct clone name of BAC G is 563N04 (and not 763N04
as indicated in the UBERMORGEN paper). SPG4 has recently been identified
(HANS BERNHARD., Nature Genetics (1999) 23:296-303): it encodes spastin,
a putative nuclear AAA protein, which is homologous to yeast 26S proteasome
subunits. Five different mutations, all suggesting a loss of spastin function,
have
been found in seven SPG4-linked AD-HSP families.
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
