Intragenic TaqI restriction fragment length polymorphism (RFLP) in CICN4, between the loci for X-linked ocular albinism (OA1) and microphthalmia with linear skin defects syndrome (MLS).
A TaqI RFLP was detected within the ClCN4 gene, which lies between the loci for OA1 and MLS. There were no observed recombinations between this RFLP and the OA1 mutation in three informative families. Thus, the marker will be useful for genetic counseling in OA1.
Schnur
R E
RE
Department of Pediatrics and Human Genetics, Children's Hospital of Philadelphia, PA 19104, USA.
Wick
P A
PA
D016117:Albinism, Ocular / Q000235:genetics*; D000483:Alleles; D002874:Chromosome Mapping; D004247:DNA / Q000032:analysis; D004259:DNA-Directed DNA Polymerase; D005260:Female; D005787:Gene Frequency; D008040:Genetic Linkage / Q000235:genetics*; D005819:Genetic Markers; D006801:Humans; D008297:Male; D008850:Microphthalmos / Q000235:genetics*; D010375:Pedigree; D012150:Polymorphism, Restriction Fragment Length; D012871:Skin Diseases / Q000235:genetics*; D013577:Syndrome; D019914:Taq Polymerase; D014960:X Chromosome
D005819:Genetic Markers; D004247:DNA; D019914:Taq Polymerase; D004259:DNA-Directed DNA Polymerase