NS22: a highly polymorphic complex microsatellite marker within the ATM gene.
We have found a complex repeat sequence (NS22) that is highly polymorphic and located within intron 45 of the ataxia-telangiectasia gene (ATM). Sequencing this region from various individuals demonstrated two different polymorphic repeating units adjacent to one another. The fact that the sequence is located within the ATM gene provides a unique opportunity to follow segregation of affected and unaffected haplotypes for prenatal diagnosis of ataxia-telangiectasia. The high degree of polymorphism observed with this marker will also aid in evaluating loss of heterozygosity (LOH) across this region of the genome and may prove valuable in assessing the role of the ATM gene in susceptibility to cancer.
Udar
N
N
Jules Stein Eye Institute, UCLA School of Medicine, Los Angeles, California 90095, USA.
Farzad
S
S
Tai
L Q
LQ
Bay
J O
JO
Gatti
R A
RA
D064007:Ataxia Telangiectasia Mutated Proteins; D001483:Base Sequence; D018797:Cell Cycle Proteins; D002880:Chromosomes, Human, Pair 11 / Q000235:genetics; D004268:DNA-Binding Proteins; D018900:Dinucleotide Repeats / Q000235:genetics; D005260:Female; D006801:Humans; D019656:Loss of Heterozygosity / Q000235:genetics; D008297:Male; D018895:Microsatellite Repeats / Q000235:genetics*; D008969:Molecular Sequence Data; D010375:Pedigree; D011110:Polymorphism, Genetic / Q000235:genetics*; D017346:Protein Serine-Threonine Kinases; D011506:Proteins / Q000235:genetics*; D017422:Sequence Analysis, DNA; D025521:Tumor Suppressor Proteins
D018797:Cell Cycle Proteins; D004268:DNA-Binding Proteins; D011506:Proteins; D025521:Tumor Suppressor Proteins; C576324:ATM protein, human; D064007:Ataxia Telangiectasia Mutated Proteins; D017346:Protein Serine-Threonine Kinases