Characterization of FRA6E and its potential role in autosomal recessive juvenile parkinsonism and ovarian cancer (p 40-52)

来自 Wiley

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作者：

Stacy，R.，Denison，Gwen，Callahan，Nicole，A.，Becker，Leslie，A.

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摘要：

Characterization of FRA6E (6q26), the third most frequently observed common fragile site (CFS) in the human population, determined that aphidicolin-induced instability at FRA6E extends over a very large region (3.6 Mb). Sequence analysis identified eight genes (IGF2R, SLC22A1, SLC22A2, SLC22A3, PLG, LPA, MAP3K4, and PARK2) as mapping within the large FRA6E region. PARK2, the gene associated with autosomal recessive juvenile parkinsonism (ARJP), accounts for more than half of the CFS. Homozygous deletions and large heterozygous deletions have been observed in PARK2 in ARJP patients. RT-PCR analysis of the eight genes localizing to FRA6E indicated that 50% of the genes, including PARK2, were down-regulated in one or more of the primary ovarian tumors analyzed. PARK2 expression was down-regulated in 60.0% of the primary ovarian tumors analyzed. Additionally, we found tumor-specific alternative transcripts of PARK2. Loss of heterozygosity analysis of primary ovarian tumors by use of polymo

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关键词：

hepatitis B virus HbcAB HbsAg

DOI：

10.1002/gcc.10236

被引量：

150

年份：

2010