Hitman G A, Garde L, Daoud W, Snodgrass G J
J Med Genet. 1989 Oct;26(10):609-13. doi: 10.1136/jmg.26.10.609.
We have investigated 13 families, each of which have one member with infantile hypercalcaemia/Williams-Beuren syndrome (IHWBS), for either a germ cell mutation of, or an association with, the calcitonin-CGRP gene. Restriction fragment mapping studies of the calcitonin-CGRP gene using five restriction enzymes (TaqI, Bg/II, PvuII, PstI, and SacI) and region specific probes failed to show any abnormalities of this gene complex. NO association of IHWBS with polymorphism of the calcitonin-CGRP/parathormone locus was found. Therefore, although the aetiology of IHWBS may be caused by a new dominant mutation, there is no evidence to implicate major rearrangements of the calcitonin-CGRP and parathormone genes.
我们研究了13个家庭，每个家庭都有一名患有婴儿高钙血症/威廉姆斯-博伦综合征（IHWBS）的成员，以寻找降钙素-CGRP基因的生殖细胞突变或与之相关的联系。使用五种限制性内切酶（TaqI、Bg/II、PvuII、PstI和SacI）和区域特异性探针进行的降钙素-CGRP基因限制性片段图谱研究未能显示该基因复合体有任何异常。未发现IHWBS与降钙素-CGRP/甲状旁腺激素基因座的多态性有关。因此，尽管IHWBS的病因可能是由一种新的显性突变引起的，但没有证据表明降钙素-CGRP基因和甲状旁腺激素基因发生了重大重排。
