Genealogic trees and microsatellite analysis.

Genealogic trees. The names of the families were given after the town where the diagnosis was first made or where one or several patients are living (AR, Arras; BI, Bicêtre; CL, Clichy; DA, Dax; GR, Grenoble; PH, Philadelphia, PA; TR, Troyes; VA, Vanves; VE, Vesoul; WO, Worcester, MA). Arrow indicates the proband; black, fully expressed hematologic picture; gray, weakly expressed hematologic picture (on the basis of red cell parameters and osmotic gradient ektacytometry); triangle, pseudohyperkalemia; asterisk, history of perinatal edema; S, splenectomized patient; small circle, stillborn baby with nonimmune hydrops fetalis; oblique bars, deceased persons; ne, nonexamined persons. Specific information on family GR is provided in the text. Microsatellite analysis. The shaded areas designate chromosomal segments assumed to carry the responsible gene. D16S3061 was tested when D16S3037 was not informative. In member II.4 of family GR, it could not be formally established whether the crossover event on the DHS chromosome had taken place between markers D16S402 and D16S3061 (the most likely possibility owing to the length of the interval, as indicated in the figure), or markers D16S3061 and D16S3037. Inset A shows assumed arrangement of markers and genetic distances between them on chromosome 16 (for references, see text). Inset B shows the occurrence of crossover events on either side of the responsible gene, assumed to lie in the D16S402-D16S3037 interval. Recombination events telomeric to the responsible gene, not reported before to our knowledge, left the gene on the centromeric subhaplotype side (D16S511-D16S402); those centromeric to the gene left it on the telomeric subhaplotype side (D16S3061-D16S303 7-D16S520-D16S498-D16S3074).