Table 3

The results of FISH and microsatellite analyses in families A–D

Locus/region3-150
(distance from 10ptel)
Methods3-151
(FISH probe)
Family AFamily BFamily CFamily D
FPMFPMFPMFPM
10p telomere regionFISH (2189b6/cosmid)+
D10S552 (14.33 cM)FISH (809F09/YAC)+
D10S552MS543-152 4113-152 3, 41, 453-152 3, 51, 411, 2
D10S189 (19.00 cM)MS1, 331, 33, 433, 41, 411, 42, 31, 2§ 1, 3
D10S1751 (20.75 cM)MS1, 311, 23, 553-152 21, 453-152 2, 51, 222
GATA3 FISH (554F11/BAC)
D10S1779 (22.78 cM)FISH (42I17/BAC)
D10S1779MS1, 221, 2333, 41, 221, 21, 333
D10S226 (27.19 cM)FISH (182F10/BAC)
D10S226MS2, 422, 51, 211, 54, 553, 51, 453-152 2, 5
D10S1720 (27.19 cM)FISH (249K20/PAC)
D10S1720MS2, 622, 31, 4112, 433-152 2, 33, 531, 3
D10S1649 (27.19 cM)MS2, 43, 4§ 3, 61, 63, 6§ 3, 54, 673-152 3, 72, 313-152 1, 4
D10S465 (28.31 cM)MS2, 32, 3§ 2, 322, 3§ 31, 323-152 2, 3233-152 3
D10S547 (29.15 cM)MS1, 2222222, 433-152 2, 32, 32, 3§ 2, 3
D10S585 (30.00 cM)FISH (765A04/YAC)++++
D10S585MS11, 3§ 3, 454, 5§ 4, 622, 6§ 1, 64, 64, 6§ 6
D10S223 (32.80 cM)MS111, 21, 21, 2§ 1, 21112, 31, 3§ 1
D10S191 (37.90 cM)MS2, 32, 7§ 3, 71, 21, 2§ 12, 52, 4§ 2, 42, 63, 6§ 3, 7
  • F, father; P, proband; M, mother; FISH, fluorescence in situ hybridisation analysis; MS, microsatellite analysis.

  • 3-150 The locus order and the genetic distance from the 10p telomere are primarily based on the chromosome 10 linkage map of the Marshfield Clinic (http://research.marshfieldclinic.org/genetics/).

  • 3-151 Resources for FISH probes: Ning et al,16 Children's Hospital, Oakland Research Institute (http://www.chori.org/bacpac/), Incyte Genomics (http://www.incyte.com/reagents/index.shtml), and Foundation Jean Dausset CEPH (http://www.cephb.fr/).

  • Resources for MS primers: Genome Database (http://www.gdb.org/).

  • The (+) and (–) symbols for FISH analysis represent the presence or absence of the examined loci/region on the abnormal chromosome 10, respectively.

  • The alleles determined by MS analysis are arbitrarily indicated by Arabic numbers according to their size:

  • 3-152 confirmed hemizygosity and§confirmed heterozygosity.