An exonic polymorphism (381A/G) in the choroideremia gene.
By using the single strand conformational analysis (SSCA) to search for point mutations in the choroideremia gene, we have identified a previously undescribed polymorphism within exon 5a (381A/G). We have studied the frequency of this polymorphism in a population from Southern France. The sequence variation creates a new restriction site for HhaI, allowing a convenient DNA-based genetic counseling in families in which the causal disease mutation is unknown.
Beaufrere
L
L
Laboratoire de Biochimie Génétique, CNRS UPR-9008, Institut de Biologie, France.
Tuffery
S
S
Hamel
C
C
Bareil
C
C
Arnaud
B
B
Demaille
J
J
Claustres
M
M
D015794:Choroideremia / Q000235:genetics*; D005091:Exons; D005260:Female; D005817:Genetic Counseling; D006801:Humans; D008297:Male; D010375:Pedigree; D011110:Polymorphism, Genetic; D014960:X Chromosome