Further evidence for an imprinted gene for neonatal diabetes localised to chromosome 6q22-q23
Further evidence for an imprinted gene for neonatal diabetes localised to chromosome 6q22-q23
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DOI：
10.1093/hmg/5.8.1117
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发表时间：
1996-08-01
影响因子：
3.5
通讯作者：
Shield, JPH
中科院分区：
文献类型：
--
作者：
Temple, IK;Gardner, RJ;Shield, JPH
短暂性新生儿糖尿病（TNDM）是一种罕见的儿童糖尿病，通常在出生后6个月内消退，但成年后易患2型糖尿病。我们最近报道了两名TNDM患儿的6号染色体（6号染色体）的父系单亲等二体性，并提出6号染色体上可能存在一个在糖尿病病因学中重要的印记基因。我们现在描述两个不相关的家庭，独立地表明，该基因是印记，是父系表达和地图6 q22-q23。一个家庭有一个重复，而另一个家庭，与家族性TNDM，显示连锁的标志物在这一地区。
Transient neonatal diabetes mellitus (TNDM) is a rare form of childhood diabetes which usually resolves in the first 6 months of life but which predisposes to type 2 diabetes of adult onset. We recently reported paternal uniparental isodisomy of chromosome 6 (UPD6) in two children with TNDM and proposed that there may be an imprinted gene important in the aetiology of diabetes on chromosome 6. We now describe two unrelated families which independently suggest that the gene is imprinted, is paternally expressed and maps to 6q22-q23. One family has a duplication while the other, with familial TNDM, shows linkage to a marker in this region.