C4B null alleles are not associated with genetic polymorphisms in the adjacent gene CYP21A2 in autism.
C4B null alleles are not associated with genetic polymorphisms in the adjacent gene CYP21A2 in autism.
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DOI：
10.1186/1471-2350-9-1
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发表时间：
2008-01-07
影响因子：
--
通讯作者：
Torres AR
中科院分区：
文献类型：
--
作者：
Sweeten TL;Odell DW;Odell JD;Torres AR
研究表明，自闭症的病因学有很强的遗传成分，但到目前为止，对导致这种疾病的基因的研究，包括几次全基因组扫描，几乎没有得到一致的发现。然而，三项研究表明，补体C4B基因空等位基因（即缺失或无功能的C4B基因）在自闭症个体中更为常见。由于CYP21A2基因与C4B位点（3kb）非常接近，因此决定检查来自自闭症受试者的样本，包括许多已知C4B空等位基因的常见CYP21A2突变。从诊断为自闭症的受试者和非自闭症的对照组（对照组）中研究了先前C4B空等位基因分型的样本。采用等位基因特异性聚合酶链反应（PCR）方法确定了8个最常见的CYP21A2基因突变，已知这些突变完全或部分抑制CYP21A2基因编码的21-羟化酶。尽管合并自闭症和对照研究对象有50个C4B零等位基因，但在超过2250个基因型中仅检测到15个CYP21A2突变。在自闭症样本中检测到8个突变，在对照组中检测到7个突变。CYP21A2突变的频率在自闭症患者和对照组之间相似。只有一个个体（自闭症）携带一条同时包含C4B零等位基因和CYP21A2突变的染色体。
Research indicates that the etiology of autism has a strong genetic component, yet so far the search for genes that contribute to the disorder, including several whole genome scans, has led to few consistent findings. However, three studies indicate that the complement C4B gene null allele (i.e. the missing or nonfunctional C4B gene) is significantly more frequent in individuals with autism. Due to the close proximity of the CYP21A2 gene to the C4B locus (3 kb) it was decided to examine samples from autistic subjects, including many with known C4B null alleles for common CYP21A2 mutations. Samples from subjects diagnosed with autism and non-autistic controls (controls) previously typed for C4B null alleles were studied. Allele specific polymerase chain reaction (PCR) methods were used to determine 8 of the most common CYP21A2 genetic mutations, known to completely or partially inhibit 21-hydroxylase, the enzyme encoded by the CYP21A2 gene. Although the combined autism and control study subjects had 50 C4B null alleles only 15 CYP21A2 mutations were detected in over 2250 genotypes. Eight mutations were detected in the autistic samples and 7 in the controls. The frequency of CYP21A2 mutations was similar between the autism and control samples. Only one individual (autistic) carried a chromosome containing both C4B null allele and CYP21A2 mutations.
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影响因子：
11.4
作者：
CARROLL, MC;PALSDOTTIR, A;PORTER, RR
通讯作者：
PORTER, RR
影响因子：
4.4
作者：
Smith, Wade P.;Vu, Quyen;Geraghty, Daniel E.
通讯作者：
Geraghty, Daniel E.
影响因子：
5.8
作者：
WILSON, RC;WEI, JQ;NEW, MI
通讯作者：
NEW, MI
影响因子：
3.9
作者：
Curin, JM;Terzic, J;Susnjara, IM
通讯作者：
Susnjara, IM
影响因子：
2.7
作者：
Torres, AR;Maciulis, A;Odell, D
通讯作者：
Odell, D