Gene study

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1: Genomics 2001 Jan 15;71(2):174-81 Related Articles, Books, LinkOut

Construction of a detailed physical and transcript map of the candidate region

for -Silver syndrome on chromosome 17q23-q24.

Dorr S, Midro AT, Farber C, kudis J, Hansmann I

Institut fur Humangenetik und Medizinische Biologie, Universitat

Halle-Wittenberg, Halle/Saale, 06097, Germany.

[Medline record in process]

-Silver syndrome (RSS) is a heterogeneous disorder characterized mainly

by pre- and postnatal growth retardation and characteristic dysmorphic features.

The genetic cause of this syndrome is unknown. However, two autosomal

translocations involving chromosome 17q25 were reported in association with RSS.

Molecular analysis of the breakpoint on chromosome 17 of the de novo

translocation previously described as t(1;17)(q31;q25) enabled us to refine the

localization of the chromosome 17 breakpoint to 17q23-q24. Since no detailed

mapping data were available for this region, we established a contig of yeast

artificial chromosomes, P1 artificial chromosomes, bacterial artificial

chromosomes, and cosmid clones for a 17q segment flanked by the sequence-tagged

site (STS) markers D17S1557 and D17S940. This contig covers a physical distance

of 4-5 Mb encompassing several novel markers. A transcript map was constructed

by assigning genes and expressed sequence tags to the clone contig, and

altogether 74 STS markers were mapped. Furthermore, the locus order and content

provide insight into several duplication events that have occurred in the

chromosomal region 17q23-q24. On the basis of our refined map, we have reduced

the translocation breakpoint region to 65 kb between the newly derived markers

58T7 and CF20b. These data provide the molecular tools for the final

identification of the RSS gene in 17q23-q24. Copyright 2001 Academic Press.

PMID: 11161811