在中国地方性骨软骨病中，对染色体 2、11 和 12 上的 23 个短串联重复序列基因座的遗传力估计和连锁分析。
Heritability estimates and linkage analysis of 23 short tandem repeat loci on chromosomes 2, 11, and 12 in an endemic osteochondropathy in China.
机构信息
Key Laboratory of Environment and Genes Related to Diseases, Medical College of Xi'an Jiaotong University, China.
出版信息
Scand J Rheumatol. 2010 May;39(3):259-65. doi: 10.3109/03009740903270599.
OBJECTIVE
To estimate the heritability of Kashin-Beck disease (KBD) in first-degree relatives and to identify chromosome regions likely to contain susceptibility loci for KBD.
METHODS
A total of 331 probands with confirmed KBD in their pedigrees were selected from 9331 residents in 17 KBD villages of Linyou county, northwestern China. The heritability (h(2)) in first-degree relatives was estimated by using Falconer's formula. The segregation ratio was calculated by the Li-Mantel-Gart method. A total of 23 short tandem repeat (STR) loci on chromosomes 2, 11, and 12 were used to identify the susceptibility genes for KBD by linkage analysis using the GENEHUNTER program in 19 KBD pedigrees.
RESULTS
The general prevalence rate of KBD was 13.75% in the 17 KBD villages, lower than that of 20.88% in the first-degree relatives of the KBD probands. In the first-degree relatives, the heritability was 0.064 and the segregation ratio 35.10% (p < 0.05). Slight evidence for heritability was detected only in locus D12S1725 with a logarithm of odds (LOD) score of 1.95. However, the nonparametric linkage (NPL) scores showed no linkage between KBD and the 23 loci; the maximum NPL score was 1.59 for locus D12S1725.
CONCLUSIONS
Our results show that 35.10% of the heritability is attributable to genetic variation for the KBD phenotype among individuals of Linyou county, and the segregation ratio supports a multifactorial inheritance of KBD. There is no significant linkage between KBD and the 23 markers in the Linyou population examined; however, markers near the locus D12S1725 may indicate loci for further study.
目的
估计一级亲属中克山病（KBD）的遗传率，并确定可能包含 KBD 易感基因座的染色体区域。
方法
从中国西北部林友县 17 个 KBD 村的 9331 名居民中选择了 331 名经证实患有 KBD 的先证者。使用 Falconer 公式估计一级亲属的遗传率（h(2)）。使用 Li-Mantel-Gart 方法计算分离比。在 19 个 KBD 家系中，使用 2 号、11 号和 12 号染色体上的 23 个短串联重复（STR）标记，通过 GENEHUNTER 程序进行连锁分析，确定 KBD 的易感基因。
结果
17 个 KBD 村中 KBD 的总流行率为 13.75%，低于 KBD 先证者一级亲属的 20.88%。在一级亲属中，遗传率为 0.064，分离比为 35.10%（p<0.05）。仅在 D12S1725 基因座检测到微弱的遗传力证据，对数优势（LOD）评分 1.95。然而，非参数连锁（NPL）评分显示 KBD 与 23 个基因座之间没有连锁；D12S1725 基因座的最大 NPL 评分为 1.59。
结论
我们的结果表明，林友县个体 KBD 表型的遗传率为 35.10%，分离比支持 KBD 的多因子遗传。在所检查的林友人群中，KBD 与 23 个标记之间没有显著的连锁；然而，D12S1725 基因座附近的标记可能表明有进一步研究的位点。
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