Bilaterally asymmetric effects of quantitative trait loci (QTLs):: QTLs that affect laxity in the right versus left coxofemoral (hip) joints of the dog (Canis familiaris)

Bilaterally asymmetric effects of quantitative trait loci (QTLs):: QTLs that affect laxity in the right versus left coxofemoral (hip) joints of the dog (Canis familiaris)
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DOI:
10.1002/ajmg.a.20363
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发表时间:
2004-01-30
影响因子:
2
通讯作者:
Lark, KG
Lark, KG
中科院分区:
生物学3区
文献类型:
--
作者:
Chase, K;Lawler, DF;Lark, KG

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狗的髋关节松弛可导致退行性关节疾病(DJD)是常见的和可遗传的,为人类疾病的某些方面提供了遗传模型。我们使用葡萄牙水犬(pwd)来识别调节髋关节松弛的数量性状位点(qtl)。286名残疾人,每个人都有大约500个分子遗传标记,分析了髋关节半脱位的情况,通过Norberg角(一种定量的松弛度放射测量方法)来测量。观察到明显的定向不对称,因此左髋关节比右髋关节更松弛。这种不对称是不可遗传的。然而,平均诺伯格角和左右臀部的诺伯格角一样是高度可遗传的。在对系谱效应进行校正后,使用左右臀部的指标作为单独的数据集确定了两个qtl。这两个QTL都位于犬的1号染色体(CFA1)上,相距约95 Mb。其中一个与SSR标记FH2524相关的QTL在左臀部显著,但在右臀部不显著。另一种与FH2598相关,对右髋关节显著,但对左髋关节不显著。对于这两个qtl,一些极端表型可以用单倍型之间的特定相互作用来最好地解释。(C) 2003 Wiley-Liss, Inc。
In dogs hip joint laxity that can lead to degenerative joint disease (DJD) is frequent and heritable, providing a genetic model for some aspects of the human disease. We have used Portuguese water dogs (PWDs) to identify Quantitative trait loci (QTLs) that regulate laxity in the hip joint. A population of 286 PWDs, each characterized by ca. 500 molecular genetic markers, was analyzed for subluxation of the hip joint as measured by the Norberg angle, a quantitative radiographic measure of laxity. A significant directed asymmetry was observed, such that greater laxity was observed in the left than the right hip. This asymmetry was not heritable. However, the average Norberg angle was highly heritable as were the Norberg angles of either the right or left hips. After correction for pedigree effects, two QTLs were identified using the metrics of the left and right hips as separate data sets. Both are on canine chromosome 1 (CFA1), separated by about 95 Mb. One QTL, associated with the SSR marker FH2524 was significant for the left, but not the right hip. The other, associated with FH2598, was significant for the right but not the left hip. For both QTLs, some extreme phenotypes were best explained by specific interactions between haplotypes. (C) 2003 Wiley-Liss, Inc.