Segregation of genetic hemochromatosis indexed by latent capacity of transferrin.
Segregation of genetic hemochromatosis indexed by latent capacity of transferrin.
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DOI：
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发表时间：
1989-09
影响因子：
9.8
通讯作者：
I. Borecki;D. Rao;J. Yaouanq;J. Lalouel
中科院分区：
文献类型：
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作者：
I. Borecki;D. Rao;J. Yaouanq;J. Lalouel
对来自法国布列塔尼的147个家系进行了遗传分离的遗传学分析，以转铁蛋白潜在能力（LCAP）为指标。在对照样本中，LCAP的分布按性别没有平均差异，尽管在家庭数据中，低值男性的代表性高于低值女性，这与受影响男性的比例较高一致。双变量分离分析的结果显示，无论是在LCAP异常的生化领域或在明显的症状性疾病的易感性增加的杂合子表达没有系统的证据。联合考虑数量变量与血色病的情感状态允许明确的决议，在这些家庭的隐性单基因遗传模式。
A genetic analysis of the segregation of hereditary hemochromatosis, indexed by the measurement of latent capacity of transferrin (LCAP), was undertaken in an ascertained sample of 147 pedigrees from Brittany, France. There were no mean differences by sex in the distribution of LCAP in the control sample, although in the family data there was a higher representation of males with low values than of females with low values, consistent with the higher proportion of affected males. The results of bivariate segregation analysis revealed no systematic evidence for heterozygous expression either in the biochemical domain of LCAP abnormalities or in increased liability to overt symptomatic disease. Joint consideration of the quantitative variable with hemochromatosis affection status allowed clear resolution of a recessive single-gene inheritance pattern in these families.