Molecular characterization of breakpoints in patients with holoprosencephaly and definition of the HPE2 critical region 2p21 |
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Authors: | Schell U; Wienberg J; Kohler A; Bray-Ward P; Ward DE; Wilson WG; Allen WP; Lebel RR; Sawyer JR; Campbell PL; Aughton DJ; Punnett HH; Lammer EJ; Kao FT; Ward DC; Muenke M |
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Institution: | Department of Pediatrics, University of Pennsylvania School of Medicine, Philadelphia 19104-4399, USA. |
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Abstract: | Holoprosencephaly (HPE) is a common developmental defect involving the
brain and face in humans. Cytogenetic deletions in patients with HPE have
localized one of the HPE genes (HPE2) to the chromosomal region 2p21. Here
we report the molecular genetic characterization of nine HPE patients with
cytogenetic deletions or translocations involving 2p21. We have determined
the parental origin of the deleted chromosomes and defined the HPE2
critical region between D2S119 and D2S88/D2S391. As a first step towards
cloning the HPE2 gene which is crucial for normal brain development we have
constructed a YAC contig which spans the smallest region of deletion
overlap. Several of these YACs could be identified which span three
different 2p21 breakpoints in HPE patients. These YACs narrow the HPE2
critical region to less than 1 Mb and are now being further analyzed to
identify the gene causing holoprosencephaly on chromosome 2.
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