Genome-wide linkage analysis and mutation analysis of hereditary congenital blepharoptosis in a Japanese family
Mitsuko NakashimaMotoi NakanoAkiyoshi HiranoTatsuya KishinoShinji KondohNobutomo MiwaNorio NiikawaKoh-ichiro Yoshiura
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Approximately one in 500 individuals carries a reciprocal translocation. Balanced translocations are usually associated with a normal phenotype unless the translocation breakpoints disrupt a gene(s) or cause a position effect. We investigated breakpoint junctions at the sequence level in phenotypically normal balanced translocation carriers. Eight breakpoint junctions derived from four nonrelated subjects with apparently balanced translocation t(1;22)(p36;q13) were examined. Additions of nucleotides, deletions, duplications, and a triplication identified at the breakpoints demonstrate high complexity at the breakpoint junctions and indicate involvement of multiple mechanisms in the DNA breakage and repair process during translocation formation. Possible detailed nonhomologous end-joining scenarios for t(1;22) cases are presented. We propose that cryptic imbalances in phenotypically normal, balanced translocation carriers may be more common than currently appreciated.
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Chronic myelogenous leukemia
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A 6-year-old boy with speech delay and mild mental retardation (IQ 82) was found to have a complex double translocation involving four chromosomes and a total of five breakpoints, two being on the same arm. This resulted in the karyotype 46,XY,t(2;4;7)(7;8)(q14;q31;q11q22;q13). As far as the authors are aware this is the first time that such a complex double translocation has been reported. Both parents had normal karyotypes.
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We have detected eight patients with a single metaphase having a 7/14 translocation. In all cases, the breakpoint on chromosome 14 was 14q12, while the breakpoint on chromosome 7 was 7q35 in three cases and 7p13 in five cases. The factors that may be involved in these nonrandom translocations are discussed.
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Five T1-5 and 10 T1-6 barley translocations were crossed with the translocation T1-7f. Plants in which the T1-5 and T1-6 translocations had been combined with T1-7f due to crossing over in the differential segment were selected in the F 2 generation. One of the chromosomes present in plants carrying the translocations in the combined form is made up of parts of the three chromosomes involved in the two translocations, and the segmental arrangement of this tripartite chromosome is determined by the position of the breakpoints in chromosome 1. The karyotypes of these stocks were analyzed and the breakpoints in seven of the translocations were assigned to the same arm and eight to the opposite arm of chromosome 1 relative to the position of the breakpoint in T1-7f.
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