PMID: 12461490

Farrell PM, Fost N
Prenatal screening for cystic fibrosis: where are we now?
J Pediatr. 2002 Dec;141(6):758-63., [PubMed]
Sentences
No. Mutations Sentence Comment
38 ABCC7 p.Arg75*
X
ABCC7 p.Arg75* 12461490:38:87
status: NEW
view ABCC7 p.Arg75* details
ABCC7 p.Arg75*
X
ABCC7 p.Arg75* 12461490:38:88
status: NEW
view ABCC7 p.Arg75* details
 For instance, 3120 + 1G → A is associated with African American CF patients, and R75X with Hispanics.9 Because new methods of analytic molecular genetics allow commercial laboratories to detect CFTR alleles that occur in minority populations, it is somewhat surprising that ACMG/ ACOG limited its recommendation to a 25 CF mutation panel that deliberately excludes CFTR alleles in "minority" ethnic groups of the United States. Login to comment