Reply to Dr. Goodman

✍ Scribed by Sirugo, G.; Pakstis, A.J.; Kidd, K.K.

• Publisher: John Wiley and Sons
• Year: 1998
• Tongue: English
• Weight: 2 KB
• Volume: 81
• Category: Article
• ISSN: 0148-7299
• DOI: 10.1002/(sici)1096-8628(19980710)81:4<348::aid-ajmg14>3.0.co;2-l

✦ Synopsis

In her letter Dr. Goodman suggests that the CTG/CAG expansion which we detected in the Danish schizophrenia kindred [Sirugo et al., 1997] could affect the expression of transthyretin (TTR), which would in turn alter the delivery of retinoids to the fetal brain and result in a schizophrenia phenotype in individuals carrying the expanded repeat. The trinucleotide repeat expansion we identified in the Danish kindred is located in an intron of the SEF2-1 gene, which encodes for a basic helix-loop-helix DNA binding protein involved in transcriptional regulation, on chromosome 18q21.1 [Breschel et al., 1997]. The SEF2-1 intragenic repeat has been located on the physical map at 7 cR distal to marker WI-6206 (unidentified transcript), and on the genetic map at 2.8 cM proximal to marker-locus D18S69 [Breschel et al., 1997]. The locus D18S69 is part of the singly-linked YAC contig WC18.4 and maps at 76 cM from the distal end of 18p. According to the Whitehead Institute/