Identification of a new polymorphism in the human proteolipid protein gene.
A polymorphism in the gene for proteolipid protein has been identified, using amplification by the polymerase chain reaction, restriction enzyme digestion, and fragment separation by polyacrylamide gel electrophoresis. The polymorphism is located in the transcribed 3'-untranslated region, a region with potential regulatory signals. The mutation consists of a single base pair insertion into a Hae III restriction site, producing a larger rare fragment of 409 bp as compared with the more frequent 325 bp fragment. The gene for proteolipid protein is on the X chromosome; thus the males are hemizygous for the rare allele and the females are heterozygous carriers. The polymorphism occurs with a frequency of 0.046 in a population of European origin and also has a rare frequency in multiple sclerosis patients.
Poduslo
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Department of Neurology, Texas Tech University Health Sciences Center, Lubbock 79430.
Decker
P
P
Astle
H
H
Kurth
J
J
LaBate
M
M
D000818:Animals; D001483:Base Sequence; D004247:DNA / Q000097:blood / Q000302:isolation & purification; D017931:DNA Primers; D005260:Female; D015186:Hominidae / Q000235:genetics*; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009185:Myelin Proteins / Q000235:genetics*; D018991:Myelin Proteolipid Protein; D016376:Oligonucleotides, Antisense; D010375:Pedigree; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D012150:Polymorphism, Restriction Fragment Length; D015183:Restriction Mapping; D014960:X Chromosome
D017931:DNA Primers; D009185:Myelin Proteins; D018991:Myelin Proteolipid Protein; D016376:Oligonucleotides, Antisense; D004247:DNA