Abstract：
:The GM2 activator locus (GM2A) had previously been considered as a candidate gene for some forms of spinal muscular atrophy (SMA; mapped to 5q11.2-q13.3). It was eliminated as a possible candidate because PCR-based mapping failed to localize the gene to chromosome 5, as was previously reported using an ELISA-based methodology. However, we demonstrated that the PCR primers used preferentially amplified a processed pseudogene (GM2AP) that we mapped to chromosome 3 and that GM2A was located on chromosome 5. In this report, we reconsider the candidacy of GM2A by refining its localization on chromosome 5 using fluorescence in situ hybridization. We localize GM2A to 5q31.3-q33.1; thus, it is not a candidate gene for SMA.
journal_name
Genomicsjournal_title
Genomicsauthors
Heng HH,Xie B,Shi XM,Tsui LC,Mahuran DJdoi
10.1006/geno.1993.1491subject
Has Abstractpub_date
1993-11-01 00:00:00pages
429-31issue
2eissn
0888-7543issn
1089-8646pii
S0888-7543(83)71491-6journal_volume
18pub_type
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