Loesch D Z, Huggins R M, Hoang N H
School of Psychology, La Trobe University, Bundoora, Victoria, Australia.
Am J Med Genet. 1995 Sep 11;58(3):249-56. doi: 10.1002/ajmg.1320580311.
The effect of fragile X on growth in stature was estimated in individuals aged 5-20 years from 50 fragile X families. The multivariate normal model for pedigree analysis was applied to the mixed longitudinal data, which varied with regard to intervals between the measurements and their number in individual subjects, totalling 349 measurement data points from fragile X families, and 292 data points from unrelated normal subjects. The results of genetic and regression analysis showed that, in fragile X boys and girls, total pubertal height gain is impaired, whereas the rate of growth during the preadolescent period is increased, compared with the growth rate of nonfragile X subjects. Moreover, the growth parameters in fragile X males were found to be correlated with the size of CGG trinucleotide expansion. The hypothesis of premature activation of the hypothalamo-pituitary gonadal axis is postulated as the cause of growth impairment in fragile X boys and girls, which should be verified by data on the timing of pubertal stages, hormone levels, and bone maturation.
在来自50个脆性X综合征家庭的5至20岁个体中，评估了脆性X对身高增长的影响。将用于系谱分析的多元正态模型应用于混合纵向数据，这些数据在测量间隔和个体受试者的测量次数方面存在差异，脆性X综合征家庭共有349个测量数据点，无关正常受试者有292个数据点。遗传和回归分析结果表明，与非脆性X综合征受试者的生长速率相比，脆性X综合征男孩和女孩的青春期总身高增长受损，而青春期前时期的生长速率增加。此外，发现脆性X综合征男性的生长参数与CGG三核苷酸重复序列的大小相关。下丘脑-垂体-性腺轴过早激活的假说是脆性X综合征男孩和女孩生长受损的原因，这一假说应通过青春期阶段时间、激素水平和骨骼成熟的数据来验证。
