Schuffenecker I, Narod S A, Ezekowitz R A, Sobol H, Feunteun J, Lenoir G M
International Agency for Research on Cancer, Lyon, France.
Cytogenet Cell Genet. 1991;56(2):99-102. doi: 10.1159/000133058.
Human mannose-binding lectin (MBL) is a serum protein which appears to function as an opsonin in first line host defense. In situ hybridization studies assign the human MBL gene to chromosome 10q11.2----q21. A restriction fragment length polymorphism (RFLP) was found using TaqI with a 0.8-kb cDNA probe for MBL (probe 48-11), yielding heterozysity in 34% of individuals tested. Using this biallelic RFLP, linkage analysis of 30 families confirms the assignment of MBL to the region of multiple endocrine neoplasia, type 2a (MEN2A) with a maximum lod score of 7.54 at a recombination fraction of 0.00 (males) and 0.097 (females). The presence of two crossovers between MEN2A and MBL in these families indicates that a defect of MBL itself is not the cause of the hereditary thyroid cancer syndrome. The addition of MBL to the genetic map of the pericentromeric region of chromosome 10 should prove useful for improved localization of the MEN2A mutation.
人甘露糖结合凝集素（MBL）是一种血清蛋白，在宿主的一线防御中似乎作为调理素发挥作用。原位杂交研究将人MBL基因定位于染色体10q11.2----q21。使用TaqI和针对MBL的0.8kb cDNA探针（探针48-11）发现了一种限制性片段长度多态性（RFLP），在34%的受测个体中产生杂合性。利用这种双等位基因RFLP，对30个家系进行连锁分析，证实MBL定位于2a型多发性内分泌肿瘤（MEN2A）区域，在重组率为0.00（男性）和0.097（女性）时，最大对数优势得分为7.54。这些家系中MEN2A和MBL之间存在两个交叉，表明MBL自身缺陷不是遗传性甲状腺癌综合征的病因。将MBL添加到10号染色体着丝粒周围区域的遗传图谱中，应该有助于改进MEN2A突变的定位。
