McInnes Lynne A, Ouchanov Leonid, Nakamine Alisa, Jimenez Patricia, Esquivel Marcela, Fallas Marietha, Monge Silvia, Bondy Pamela, Manghi Elina R
Department of Psychiatry, Mount Sinai School of Medicine, New York, New York, USA.
BMC Psychiatry. 2007 May 22;7:21. doi: 10.1186/1471-244X-7-21.
We are conducting a genetic study of autism in the isolated population of the Central Valley of Costa Rica (CVCR). A novel Neuregulin 1 (NRG1) missense variant (exon 11 G>T) was recently associated with psychosis and schizophrenia (SCZ) in the same population isolate.
We genotyped the NRG1 exon 11 missense variant in 146 cases with autism, or autism spectrum disorder, with CVCR ancestry, and both parents when available (N = 267 parents) from 143 independent families. Additional microsatellites were genotyped to examine haplotypes bearing the exon 11 variant.
The NRG1 exon 11 G>T variant was found in 4/146 cases including one de novo occurrence. The frequency of the variant in case chromosomes was 0.014 and 0.045 in the parental non-transmitted chromosomes. At least 6 haplotypes extending 0.229 Mb were associated with the T allele. Three independent individuals, with no personal or family history of psychiatric disorder, shared at least a 1 megabase haplotype 5' to the T allele.
The NRG1 exon 11 missense variant is not associated with autism in the CVCR.
我们正在对哥斯达黎加中央山谷（CVCR）的孤立人群进行自闭症的基因研究。最近，在同一人群隔离区中，一种新的神经调节蛋白1（NRG1）错义变体（外显子11 G>T）与精神病和精神分裂症（SCZ）相关。
我们对146例患有自闭症或自闭症谱系障碍、有CVCR血统且父母均在世（N = 267名父母）的143个独立家庭进行了NRG1外显子11错义变体的基因分型。对额外的微卫星进行基因分型，以检查携带外显子11变体的单倍型。
在146例病例中有4例发现了NRG1外显子11 G>T变体，其中包括1例新生突变。该变体在病例染色体中的频率为0.014，在亲本未传递染色体中的频率为0.045。至少6个延伸0.229 Mb的单倍型与T等位基因相关。三名无精神疾病个人或家族史的独立个体在T等位基因5'端共享至少1兆碱基的单倍型。
在CVCR中，NRG1外显子11错义变体与自闭症无关。
