PubMed · 8810196
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M Mutsuddi, S S Roy, A N Datta. 1996. Limb ring constriction.. https://pubmed.ncbi.nlm.nih.gov/8810196/
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An 800-kb region on chromosome 8q21, which complements the phenotype of cells from Nijmegen breakage syndrome patients, is a candidate for the locus of the underlying gene, termed NBS1. The sequence of this 800-kb region of DNA indicated that the size of this segment is 755,832 bp with an additional 36-kb gap. From this region, we identified four genes including NBS1, a gene coding for a 27-kDa vitamin D-dependent calcium-binding protein (27-kDa calbindin), the mitochondrial 2,4-dienoyl-CoA reductase gene, and a novel gene, C8orf1/hT41. All four genes were aligned in a 250-kb centromeric portion of the region, and no gene was found in the remaining telomeric portion containing 500 kb. The genomic organization of the C8orf1/hT41 and NBS1 genes has been analyzed using the computer programs GRAIL 2 and GENSCAN. They predicted and successfully found more than 93% of the exons, even a small 54-bp exon, indicating that one or more exons in any gene can be identified by these programs. GENSCAN was more efficient at locating the four genes than GRAIL 2 and identified 15 of the 16 exons of the NBS1 gene. This 800-kb region contained repetitive sequences, including 179 copies of the Alu sequence (1 copy/4.2 kb), 123 copies of the L1 sequence (1 copy/6.1 kb), 107 copies of the LTR sequence (1 copy/7.1 kb), and 63 copies of the MER sequence (1 copy/12 kb). There was a slight but not significant difference in the repetitive content of the gene-rich region and the remaining noncoding region. Our results indicate that computer-assisted methods are useful and powerful for identifying exons of both known and novel genes.
The purpose of this study was to investigate frequency and pattern of urological abnormalities in children younger than two years of age in the county of Frederiksborg, Denmark, with a catchment area of about 350,000 people, and furthermore to investigate in which way the urological abnormalities were diagnosed. From 1994-1996 a total of 35 children younger than two years of age were found to have urological abnormalities. Fourteen patients had a ultrasonographical prenatally diagnosed urological abnormality, which was confirmed postnatally. Twenty-one children were diagnosed with urological abnormalities after presentry with their first urinary tract infection. The obstructive urological diagnoses: congenital hydronephrosis, congenital megaureter and posterior urethral valves made up to 57% (20/35) of the abnormalities. Nine boys were operated upon; three for unilateral hydronephrosis, two for posterior urethral valves, one for unilateral megaureter and three for phimosis. Two girls were treated with oestrogen for labial fusion. Urological abnormalities which were treated were found among the ultrasonographically diagnosed abnormalities, apart from phimosis and labial fusion. The frequency of urological abnormalities was 0.25% in children younger than two years of age in Frederiksborg county. In conclusion, in 1994-1996 the frequency and pattern of urological abnormalities in Frederiksborg county was in accordance with the figures in the literature. Urological abnormalities requiring treatment were diagnosed in 11 children; 55% (6/11) ultrasonographically and 45% (5/11) by examination of the external genitalia of children younger than two years of age at the time of the first diagnosed urinary tract infection.
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