Figure 1.

Pedigree Structures, Genotypic, and Restriction Analysis in Two Chinese Families with Episodic Pain

Individuals with pain disease are indicated by solid squares (males) or solid circles (females). Unaffected individuals are indicated by open symbols. Deceased individuals are indicated by slashes (/). The proband is indicated by an arrow.

(A) Microsatellite haplotypes spanning the linkage region on chromosome 3p22.3–p21.32 identified in the whole-genome scan from the JLTH family. Genotypes for markers D3S1277, D3S3623, D3S1298, D3S3521, D3S3517, D3S3685, and D3S1581 are shown below each symbol. The black vertical bar (including markers D3S3623, D3S1298, D3S3521, and D3S3517) indicates the haplotype cosegregating with the disease.

(B) The NciI restriction analysis showing full segregation of the c.673C>T mutation with the disease phenotype in the JLTH family.

(C) Linkage analysis from the HBBJ family showed the markers D3S1298, D3S3521, and D3S3685 cosegregating with the disease, but D3S1581 did not.

(D) The HindIII restriction analysis showing full segregation of the c.2423C>G mutation with the disease phenotype in the HBBJ family.