Reply to Reichardt

Journal Article · Sun Oct 01 04:00:00 EDT 1995 · American Journal of Human Genetics

OSTI ID:237464

Elsas, II, L J ^[1]

---

1. Emory Univ. School of Medicine, Atlanta, GA (United States)

We thank Dr. Reichardt for carefully scrutinizing table 2 in Elsas et al. for attribution of mutations. He is concerned about the S135L mutation, which we attributed to Reichardt and Woo instead of Reichardt et al. In Reichardt et al., he describes the S135L as a {open_quotes}polymorphism{close_quotes} that {open_quotes}encodes almost normal activity{close_quotes}. Typographical errors did inadvertently attribute the R333G and K334R mutations to Reichardt rather than to Leslie et al. and the L195P to Leslie et al. rather than to Reichardt et al.. In this dynamic field, it is sometimes difficult to acknowledge description of a given {open_quotes}mutation.{close_quotes} For example, although N314D was identified in 1991, it was first recognized as associated with the Duarte biochemical phenotype in 1992, and its prevalence was defined in 1994. Lin et al. confirmed its association with the Duarte phenotype and found four N314D alleles in 95 biochemically defined G-alleles. Lin et al. found no {open_quotes}additional nucleotide substitutions in the entire [galactose-l-phosphate uridyl transferase] GALT region.{close_quotes} The article by Elsas et al. suggests that he missed non-Q188R G-alleles associated with the generally prevalent N314D allele (5.9% in the general population). 8 refs.

• OSTI ID: 237464
• Journal Information: American Journal of Human Genetics, Journal Name: American Journal of Human Genetics Journal Issue: 4 Vol. 57; ISSN AJHGAG; ISSN 0002-9297
• Country of Publication: United States
• Language: English

Related Subjects

55 BIOLOGY AND MEDICINE
BASIC STUDIES
ENZYME ACTIVITY
ENZYMES
GALACTOSE
GENE MUTATIONS
GENES
GENETIC MAPPING
METABOLIC DISEASES