Demographics of the UK cystic fibrosis population: implications for neonatal screening
Demographics of the UK cystic fibrosis population: implications for neonatal screening
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DOI：
10.1038/sj.ejhg.5200850
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发表时间：
2002-10-01
影响因子：
5.2
通讯作者：
Mehta, A
中科院分区：
文献类型：
--
作者：
McCormick, J;Green, MW;Mehta, A
目的是确定在英国CF专科中心就诊的囊性纤维化（CF）人群的年龄、性别、诊断年龄、基因型和种族组成。随着英国国家CF筛查计划的引入，囊性纤维化跨膜调节剂（CFTR）突变在不同种族群体之间进行了比较，从而确定了英国特有的突变频率。数据分析来自英国CF数据库中保存的患者传记（见www.cystic-fibrosis.org.uk）。目前登记的5274例CF患者中，白人占96.3%，男性优势随着年龄的增长而显著增加。196例非高加索CF患者中的大多数来自印度次大陆（ISC），其中84例英国CF患者中有1例来自巴基斯坦。最常见的CFTR突变DeltaF508在74.1%的CF染色体中被发现。在高加索CF人群中，57.5%是DeltaF508纯合子，而英国ISC CF人群只有24.7%，DeltaF508纯合子患者明显较少（95%置信区间（CI） 0.2-0.4）。高加索患者DeltaF508/DeltaF508、DeltaF508/Other和Other/Other的分布不符合Hardy-Weinberg模型的预期分布，除非排除未检测到突变的患者（少数民族检出率为P80%）。筛查阳性、无可识别CFTR突变的非高加索婴儿出生后血清胰蛋白酶原浓度升高时，应进行汗液检测和遗传咨询。
The objective was to determine the composition of the Cystic Fibrosis (CF) Population attending specialist UK CF centres in terms of age, gender, age at diagnosis, genotype and ethnicity. With the planned introduction of the national CF screening programme in the UK, cystic fibrosis transmembrane regulator (CFTR) mutations were compared between different ethnic groups enabling a UK-specific frequency of mutations to be defined. Data were analysed from the patient biographies held in the UK CF Database (see www.cystic-fibrosis.org.uk). The currently registered population of 5274 CF patients is 96.3% Caucasian with a male preponderance that significantly increases with age. The majority of the 196 non-Caucasian CF patients are from the Indian Subcontinent (ISC), of which one in 84 UK CF patients are of Pakistani origin. The commonest CFTR mutation, DeltaF508, is found in 74.1% of all CF chromosomes. In the Caucasian CF population, 57.5% are DeltaF508 homozygotes but the UK ISC CF population with only 24.7%, has significantly fewer DeltaF508 homozygotes patients (95% confidence interval (CI) 0.2-0.4). The distribution of Caucasian patients with DeltaF508/DeltaF508, DeltaF508/Other and Other/Other does not fit the expected distribution with a Hardy-Weinberg model unless those patients without a detected mutation are excluded (P80% detection rates in the ethnic minority groups. Screen-positive, non-Caucasian infants without an identifiable CFTR mutation should be referred for a sweat test and genetic counselling when serum trypsinogen concentrations remain elevated after birth.