Volume 58, Issue 6, Pages (December 2000)

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Volume 58, Issue 6, Pages 2281-2290 (December 2000) Genetic evidence for a novel gene(s) involved in urogenital development on 10q26 Tsutomu Ogata, Koji Muroya, Isoji Sasagawa, Tomoki Kosho, Keiko Wakui, Satoru Sakazume, Katsumi Ito, Nobutake Matsuo, Hirofumi Ohashi, Toshiro Nagai Kidney International Volume 58, Issue 6, Pages 2281-2290 (December 2000) DOI: 10.1046/j.1523-1755.2000.00412.x Copyright © 2000 International Society of Nephrology Terms and Conditions

Figure 1 Clinical findings of case 4. (A) Voiding cystourethrography (VCG), showing left vesicoureteral reflux (VUR; grade 3) and hydronephrosis. (B) External genitalia, with micropenis, bifid scrotum, hypospadias, and undescended testes. Kidney International 2000 58, 2281-2290DOI: (10.1046/j.1523-1755.2000.00412.x) Copyright © 2000 International Society of Nephrology Terms and Conditions

Figure 2 Molecular cytogenetic findings in case 4. (A) Telomere fluorescence in situ hybridization (FISH) analysis. Only a single signal is detected for the 10q telomere (arrow), whereas two signals are found for the 10p telomere (arrowheads). (B) Whole chromosome 10 painting. Both the normal chromosome 10 (arrow) and the deleted chromosome 10 (arrowhead) are homogeneously stained. Kidney International 2000 58, 2281-2290DOI: (10.1046/j.1523-1755.2000.00412.x) Copyright © 2000 International Society of Nephrology Terms and Conditions

Figure 3 Microsatellite analysis in case 4. Leukocyte genomic DNA was amplified by polymerase chain reaction (PCR) with fluorescently labeled forward primer and unlabeled reverse primer, and the PCR products were mixed with internal control size markers and were electrophoresed on an autosequencer (ABI PRISM 310). The size of the PCR products was determined by GeneScan software version 2.1. D10S1723: Paternal markers are not inherited by the patient, and one of the two maternal markers alone is transmitted to the patient, demonstrating hemizygosity of this locus in the patient. The peak size is as follows: 161bp and 163bp for the father, 145bp for the patient, and 145bp and 161bp for the mother. D10S1679: The patient is heterozygous with the maternally derived and the paternally derived peaks. The peak size is as follows: 203bp and 205bp for the father, and 203bp and 213bp for the patient and the mother. Kidney International 2000 58, 2281-2290DOI: (10.1046/j.1523-1755.2000.00412.x) Copyright © 2000 International Society of Nephrology Terms and Conditions

Figure 4 Chromosomal location of five genes (RET, PAX2, GFRA1, EMX2, and FGFR2) known to be involved in urinary and/or genital development and that of D10S186 and D10S1248 defining the proximal boundaries of the critical regions for urinary and genital development, respectively, proposed in this study. The position of each locus is based on the Genome Database (http://www.gdb.org) and the report on the International Workshop on Human Chromosome 10 Mapping23. The ideogram on the left side denotes the G-banding pattern of the 10q chromosome. Kidney International 2000 58, 2281-2290DOI: (10.1046/j.1523-1755.2000.00412.x) Copyright © 2000 International Society of Nephrology Terms and Conditions