Abstract：
:Miller-Dieker syndrome (MDS), a disorder manifesting the severe brain malformation lissencephaly ("smooth brain"), is caused, in the majority of cases, by a chromosomal microdeletion of the distal short arm of chromosome 17. Using human chromosome 17-specific DNA probes, we have begun a molecular dissection of the critical region for MDS. To localize cloned DNA sequences to the MDS critical region, a human-rodent somatic cell hybrid panel was constructed which includes hybrids containing the abnormal chromosome 17 from three MDS patients with deletions of various sizes. Three genes (myosin heavy chain 2, tumor antigen p53, and RNA polymerase II) previously mapped to 17p were excluded from the MDS deletion region and therefore are unlikely to play a role in its pathogenesis. In contrast, three highly polymorphic anonymous probes, YNZ22.1 (D17S5), YNH37.3 (D17S28), and 144-D6 (D17S34), were deleted in each of four patients with visible deletions, including one with a ring chromosome 17 that is deleted for a portion of the single telomeric prometaphase subband p13.3. In two MDS patients with normal chromosomes, a combination of somatic cell hybrid, RFLP, and densitometric studies demonstrated deletion for YNZ22.1 and YNH37.3 in the paternally derived 17's of both patients, one of whom is also deleted for 144-D6. The results indicate that MDS can be caused by submicroscopic deletion and raises the possibility that all MDS patients will prove to have deletions at a molecular level. The two probes lie within a critical region of less than 3,000 kb and constitute potential starting points in the isolation of genes implicated in the severe brain maldevelopment in MDS.
journal_name
Am J Hum Genetjournal_title
American journal of human geneticsauthors
vanTuinen P,Dobyns WB,Rich DC,Summers KM,Robinson TJ,Nakamura Y,Ledbetter DHsubject
Has Abstractpub_date
1988-11-01 00:00:00pages
587-96issue
5eissn
0002-9297issn
1537-6605journal_volume
43pub_type
杂志文章abstract：:The gene for vimentin, an intermediate-filament protein, is growth regulated. We used Southern blot analysis and in situ chromosome hybridization to determine the location of the human vimentin gene. Our results show that there is only one copy of the vimentin gene and that it is located on the short arm of chromosome...
journal_title：American journal of human genetics
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journal_title：American journal of human genetics
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journal_title：American journal of human genetics
pub_type： 杂志文章
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journal_title：American journal of human genetics
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journal_title：American journal of human genetics
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journal_title：American journal of human genetics
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journal_title：American journal of human genetics
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更新日期：1986-04-01 00:00:00
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更新日期：1992-01-01 00:00:00
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更新日期：1992-11-01 00:00:00
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更新日期：2000-12-01 00:00:00
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更新日期：2006-11-01 00:00:00
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journal_title：American journal of human genetics
pub_type： 杂志文章
doi：
更新日期：1990-09-01 00:00:00
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journal_title：American journal of human genetics
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更新日期：1989-04-01 00:00:00
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journal_title：American journal of human genetics
pub_type： 杂志文章
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更新日期：2000-07-01 00:00:00
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journal_title：American journal of human genetics
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doi：
更新日期：1984-03-01 00:00:00
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journal_title：American journal of human genetics
pub_type： 杂志文章
doi：
更新日期：1975-05-01 00:00:00
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journal_title：American journal of human genetics
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journal_title：American journal of human genetics
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journal_title：American journal of human genetics
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更新日期：1986-05-01 00:00:00
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journal_title：American journal of human genetics
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doi：
更新日期：1989-07-01 00:00:00
abstract：:Neurofibromatosis 2 (NF2) is a genetic disorder characterized by the development of multiple nervous-system tumors in young adulthood. The NF2 gene has recently been isolated and found to encode a new member of the protein 4.1 family of cytoskeletal associated proteins, which we have named merlin. To define the molecu...
journal_title：American journal of human genetics
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更新日期：1994-08-01 00:00:00
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更新日期：2011-11-11 00:00:00
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更新日期：1986-04-01 00:00:00
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