Pst I restriction fragment length polymorphism of human placental alkaline phosphatase gene: Mendelian in segregation and localization of mutation site in the gene

Journal Article · Sat Oct 01 00:00:00 EDT 1988 · Proceedings of the National Academy of Sciences of the United States of America; (USA)

DOI:https://doi.org/10.1073/pnas.85.20.7680· OSTI ID:5546634

Tsavaler, L; Penhallow, R C; Sussman, H H ^[1]

---

1. Stanford Univ., CA (USA)

The pattern of inheritance of a Pst I restriction fragment length polymorphism (RFLP) of the human placental alkaline phosphatase gene was studied in nine nuclear families by Southern blot hybridization analysis of genomic DNA. The dimorphic RFLP is defined by the presence of allelic fragments 1.0 kilobase and 0.8 kilobase long. The results of this study show that the two alleles of the Pst I RFLP of the placental alkaline phosphatase gene segregate as codominant traits according to Mendelian expectations. For a polymorphism to be useful as a genetic marker the probability that an offspring is informative (PIC) must be at least 0.15. The allelic frequency of the 1.0-kilobase allele is 0.21, which correlates to a probability that an offspring is informative of 0.275 and is indicative of a useful polymorphism. By using probes derived from different regions of the placental alkaline phosphatase cDNA, the mutated Pst I site causing the RFLP was located in the penultimate intron 2497 base pairs downstream from the transcriptional initiation site.

• OSTI ID: 5546634
• Journal Information: Proceedings of the National Academy of Sciences of the United States of America; (USA), Vol. 85:20; ISSN 0027-8424
• Country of Publication: United States
• Language: English

Related Subjects

59 BASIC BIOLOGICAL SCIENCES
ALKALINE PHOSPHATASE
RFLPS
DNA
HYBRIDIZATION
GENE MUTATIONS
GENETIC MAPPING
ELECTROPHORESIS
GENES
MAN
PHOSPHORUS 32
PLACENTA
RECOMBINANT DNA
ANIMALS
BETA DECAY RADIOISOTOPES
BETA-MINUS DECAY RADIOISOTOPES
DAYS LIVING RADIOISOTOPES
ENZYMES
ESTERASES
FETAL MEMBRANES
HYDROLASES
ISOTOPES
LIGHT NUCLEI
MAMMALS
MAPPING
MEMBRANES
MUTATIONS
NUCLEI
NUCLEIC ACIDS
ODD-ODD NUCLEI
ORGANIC COMPOUNDS
PHOSPHATASES
PHOSPHORUS ISOTOPES
PRIMATES
RADIOISOTOPES
VERTEBRATES
550401* - Genetics- Tracer Techniques