Article
Infantile hypophosphatasia: localization within chromosome region 1p36.1-34 and prenatal diagnosis using linked DNA markers.
American journal of human genetics - 1 Feb 1990
Greenberg C R, Evans J A, McKendry-Smith S, Redekopp S, Haworth J C, Mulivor R, Chodirker B N
Abstract excerpt
Linkage analysis was performed on data from Manitoba Mennonite families identified by a proband with infantile hypophosphatasia (HOPS), an autosomal recessive disorder characterized by defective skeletal mineralization. Southern blot analysis of Msp-I-digested DNA from HOPS nuclear families probe...
Topics
- Adult
- Alleles
- Blotting, Southern
- Cells, Cultured
- Child
- Chromosome Mapping
- Chromosomes, Human, Pair 1
- DNA
- Deoxyribonuclease HpaII
- Deoxyribonucleases, Type II Site-Specific
- Female
- Genetic Markers
- Haplotypes
- Humans
- Hypophosphatasia
- Infant, Newborn
- Male
- Pedigree