1. Assignment of the Muscle-Eye-Brain Disease Gene to 1p32-p34 by Linkage Analysis and Homozygosity Mapping 
Bru Cormand, Kristiina Avela, Helena Pihko, Pirkko Santavuori, Beril Talim, Haluk Topaloglu, Albert de la Chapelle, Anna-Elina Lehesjoki 
The American Journal of Human Genetics 
Volume 64, Issue 1, Pages (January 1999)
DOI: /302206
Copyright © 1999 The American Society of Human Genetics Terms and Conditions

2. Figure 1
A (opposite), Pedigrees of the Finnish MEB families F1–F6, showing haplotypes for 12 polymorphic markers on 1p. Affected individuals are denoted by blackened symbols, deceased family members are indicated by diagonal slashes, and consanguineous matings are marked by double lines. The haplotypes segregating with the disease phenotype are shown by black bars situated between the marker alleles. Families F1, F2, F3, and F5 were used in the first stage of the genomewide screening. Individuals II-3 and II-4 from family F4 did not fulfill the diagnostic criteria for MEB and were thus excluded from the initial linkage studies. The haplotype analysis on 1p excluded linkage to the MEB locus in these two individuals (see the Results section). B (above), Pedigrees of the consanguineous MEB families F7 (Finnish) and T1 (Turkish). Affected individuals are denoted by blackened symbols. Haplotypes for 20 markers surrounding the MEB gene on 1p are shown. The regions of homozygosity are indicated by black bars. tel = telomere; cen = centromere.
The American Journal of Human Genetics  , DOI: ( /302206)
Copyright © 1999 The American Society of Human Genetics Terms and Conditions

3. Figure 1
A (opposite), Pedigrees of the Finnish MEB families F1–F6, showing haplotypes for 12 polymorphic markers on 1p. Affected individuals are denoted by blackened symbols, deceased family members are indicated by diagonal slashes, and consanguineous matings are marked by double lines. The haplotypes segregating with the disease phenotype are shown by black bars situated between the marker alleles. Families F1, F2, F3, and F5 were used in the first stage of the genomewide screening. Individuals II-3 and II-4 from family F4 did not fulfill the diagnostic criteria for MEB and were thus excluded from the initial linkage studies. The haplotype analysis on 1p excluded linkage to the MEB locus in these two individuals (see the Results section). B (above), Pedigrees of the consanguineous MEB families F7 (Finnish) and T1 (Turkish). Affected individuals are denoted by blackened symbols. Haplotypes for 20 markers surrounding the MEB gene on 1p are shown. The regions of homozygosity are indicated by black bars. tel = telomere; cen = centromere.
The American Journal of Human Genetics  , DOI: ( /302206)
Copyright © 1999 The American Society of Human Genetics Terms and Conditions

4. Figure 2
MRI features of the brain of an MEB patient. Sagittal view showing an enlarged lateral ventricle, thin corpus callosum, absent pons, abnormal tectum, and cerebellar atrophy with absent vermis. The patient also has a pachygyria-type cortical migration defect.
The American Journal of Human Genetics  , DOI: ( /302206)
Copyright © 1999 The American Society of Human Genetics Terms and Conditions

5. Figure 3
Ideogram of chromosome 1, showing the location and the relative order of and distances (in centimorgans) between the markers analyzed in this study. The MEB locus interval as defined by recombination events in affected individuals is indicated by a white bar. Blackened bars indicate regions of homozygosity in the affected sibs in the consanguineous families F7 and T1. Taken together, the data suggest that the MEB gene lies in a 9-cM interval between markers D1S211 and D1S200.
The American Journal of Human Genetics  , DOI: ( /302206)
Copyright © 1999 The American Society of Human Genetics Terms and Conditions