南非阿拉伯马中严重联合免疫缺陷、薰衣草马驹综合征和小脑性共济失调的携带者患病率。

The carrier prevalence of severe combined immunodeficiency, lavender foal syndrome and cerebellar abiotrophy in Arabian horses in South Africa.

作者信息

Tarr C J, Thompson P N, Guthrie A J, Harper C K

机构信息

Department of Production Animal Studies, Faculty of Veterinary Science, University of Pretoria, Onderstepoort, South Africa.

出版信息

Equine Vet J. 2014 Jul;46(4):512-4. doi: 10.1111/evj.12177. Epub 2013 Nov 18.

DOI:10.1111/evj.12177

PMID:24033554

Abstract

REASONS FOR PERFORMING STUDY

The carrier prevalence of severe combined immunodeficiency (SCID), lavender foal syndrome (LFS) and cerebellar abiotrophy (CA) in Arabian foals in South Africa was determined in order to quantify the potential impact of these conditions locally. Furthermore, the carrier prevalence of SCID prior to and following the introduction of a genetic test was compared to evaluate the effect of testing in the population.

OBJECTIVES

To estimate the carrier prevalence of SCID, LFS and CA in registered purebred Arabians born in South Africa in the 2004/5 and 2009/10 foaling seasons and compare the changes in prevalence in these disorders between the 2 groups of foals.

STUDY DESIGN

Cross-sectional survey.

METHODS

Samples were collected from individuals randomly selected from 2 populations of purebred Arabian foals born during the 2004/5 and 2009/10 foaling seasons. Genetic testing for SCID, LFS and CA was performed on DNA extracts using specific polymerase chain reactions, with the products being analysed using fragment analysis on a genetic analyser.

RESULTS

The carrier prevalence of LFS and CA for the 2009/10 season was 11.7% (95% confidence interval [CI] 7.6-17.0%) and 5.1% (95% CI 2.5-9.1%), respectively, with no statistically significant change in prevalence between the 2004/5 and 2009/10 foaling seasons. However, the carrier prevalence of SCID was found to have decreased significantly from 6.4% (95% CI 4.8-8.3%) in the 2004/5 foals to 3.4% (95% CI 2.2-5.1%) in the 2009/10 foals (P = 0.009).

CONCLUSIONS

The results of this study indicate that genetic screening of Arabian horses for SCID may have played a role in significantly reducing the carrier prevalence within the breeding population and thereby reducing the birth of clinically affected individuals. This study provides an indication of the positive effect of genetic screening for specific conditions in horses.

摘要

开展本研究的原因

测定南非阿拉伯马驹中严重联合免疫缺陷（SCID）、薰衣草驹综合征（LFS）和小脑性共济失调（CA）的携带率，以量化这些疾病在当地的潜在影响。此外，比较基因检测引入前后SCID的携带率，以评估检测在种群中的效果。

目的

估计2004/05和2009/10产驹季节在南非出生的注册纯种阿拉伯马中SCID、LFS和CA的携带率，并比较两组马驹中这些疾病携带率的变化。

研究设计

横断面调查。

方法

从2004/05和2009/10产驹季节出生的纯种阿拉伯马驹的两个群体中随机选取个体采集样本。使用特定的聚合酶链反应对DNA提取物进行SCID、LFS和CA的基因检测，产物在基因分析仪上通过片段分析进行分析。

结果

2009/10产驹季节LFS和CA的携带率分别为11.7%（95%置信区间[CI]7.6 - 17.0%）和5.1%（95%CI 2.5 - 9.1%），2004/05和2009/10产驹季节的携带率无统计学显著变化。然而，发现SCID的携带率从2004/05马驹中的6.4%（95%CI 4.8 - 8.3%）显著降至2009/10马驹中的3.4%（95%CI 2.2 - 5.1%）（P = 0.009）。