Reg. 259 (Jan. 4, 2011). 4 See definition of applicable clinical trial at 42 U.S.C. 282(j)(1)(A). The content of this article is intended to provide a general guide to the subject matter. Specialist advice should be sought about your specific circumstances.
We identified a risk haplotype in SLC18A2 and found a consistent result in the Detroit Neighborhood Health Study (DNHS) (N=748), an epidemiologic sample of primarily African-American adults residing in urban Detroit (Goldmann et al, 2011).
Another way to define haploinsufficiency is as a condition that arises when the normal phenotype requires the protein product of both alleles, and reduction of 50% of gene function results in an abnormal phenotype. Haploinsufficiency can be due to a number of problems. One of the two copies of the gene may be missing due to a deletion. A mutation (change) in the gene may have wiped out production of message.