Skip to main content
. 2008 May 2;82(5):1178–1184. doi: 10.1016/j.ajhg.2008.03.007

Figure 2.

Figure 2

Linkage Analysis, Detailed Map of NKX5-3, and Mutation Analysis

(A) Linkage analysis with microsatellites from chromosome 4.

(B) The 11.9 Mb candidate region on chromosome 4p16.1 containing several candidate genes including NKX5-3 and genomic organization of NKX5-3. The coding region comprises two exons (shaded boxes); the homeodomain is designed by a black box.

(C) DNA sequence of NKX5-3 in a normal control (+/+), one heterozygous parent (VIII.2) (+/−), and the homozygous proband (IX.2) (−/−). The homozygous deletion was also found in patients VII.8 and VII.9.