导致I b型假性甲状旁腺功能减退的基因是父系印记基因，在四个不相关的家族中定位于20号染色体长臂13.3区。
The gene responsible for pseudohypoparathyroidism type Ib is paternally imprinted and maps in four unrelated kindreds to chromosome 20q13.3.
作者信息
Jüppner H, Schipani E, Bastepe M, Cole D E, Lawson M L, Mannstadt M, Hendy G N, Plotkin H, Koshiyama H, Koh T, Crawford J D, Olsen B R, Vikkula M
机构信息
Endocrine, Departments of Medicine and Pediatrics, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114, USA.
出版信息
Proc Natl Acad Sci U S A. 1998 Sep 29;95(20):11798-803. doi: 10.1073/pnas.95.20.11798.
Abstract
Hypocalcemia and hyperphosphatemia caused by parathyroid hormone (PTH)-resistance are the only discernible abnormalities in pseudohypoparathyroidism type Ib (PHP-Ib). Because mutations in the PTH/PTH-related peptide receptor, a plausible candidate gene, had been excluded previously, we conducted a genome-wide search with four PHP-Ib kindreds and established linkage to a small telomeric region on chromosome 20q, which contains the stimulatory G protein gene. We, furthermore, showed that the genetic defect is imprinted paternally and thus is inherited in the same mode as the PTH-resistant hypocalcemia in kindreds with PHP-Ia and/or pseudo-pseudohypoparathyroidism, two related disorders caused by different stimulatory G protein mutations.
摘要
甲状旁腺激素（PTH）抵抗引起的低钙血症和高磷血症是Ⅰb型假性甲状旁腺功能减退症（PHP-Ⅰb）唯一可识别的异常表现。由于先前已排除甲状旁腺激素/甲状旁腺激素相关肽受体（一个可能的候选基因）的突变，我们对4个PHP-Ⅰb家系进行了全基因组搜索，并确定与20号染色体长臂上一个小的端粒区域存在连锁关系，该区域包含刺激性G蛋白基因。此外，我们还表明，该遗传缺陷是父系印记的，因此其遗传模式与PHP-Ⅰa和/或假性假性甲状旁腺功能减退症家系中的PTH抵抗性低钙血症相同，后两种相关疾病是由不同的刺激性G蛋白突变引起的。
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The gene responsible for pseudohypoparathyroidism type Ib is paternally imprinted and maps in four unrelated kindreds to chromosome 20q13.3.导致I b型假性甲状旁腺功能减退的基因是父系印记基因，在四个不相关的家族中定位于20号染色体长臂13.3区。
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