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)

R E Schnur; P A Wick

doi:10.1007/BF00223880

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)

Hum Genet. 1995 May;95(5):594-5. doi: 10.1007/BF00223880.

Authors

R E Schnur¹, P A Wick

Affiliation

¹ Department of Pediatrics and Human Genetics, Children's Hospital of Philadelphia, PA 19104, USA.

PMID: 7759088
DOI: 10.1007/BF00223880

Abstract

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.

MeSH terms

Albinism, Ocular / genetics*
Alleles
Chromosome Mapping
DNA / analysis
DNA-Directed DNA Polymerase
Female
Gene Frequency
Genetic Linkage / genetics*
Genetic Markers
Humans
Male
Microphthalmos / genetics*
Pedigree
Polymorphism, Restriction Fragment Length*
Skin Diseases / genetics*
Syndrome
Taq Polymerase
X Chromosome*

Substances

Genetic Markers
DNA
Taq Polymerase
DNA-Directed DNA Polymerase