Jamieson C R, van der Burgt I, Brady A F, van Reen M, Elsawi M M, Hol F, Jeffery S, Patton M A, Mariman E
Medical Genetics Unit, St. George's Hospital Medical School, London, UK.
Nat Genet. 1994 Dec;8(4):357-60. doi: 10.1038/ng1294-357.
Noonan syndrome is characterized by typical facies, short stature and congenital cardiac defects. Approximately half of all cases are sporadic, but autosomal dominant inheritance with variable expression is well established. We have performed a genome-wide linkage analysis in a large Dutch kindred with autosomal dominant Noonan syndrome, and localized the Noonan syndrome gene to chromosome 12 (Zmax = 4.04 at 0 = 0.0). Linkage analysis using chromosome 12 markers in 20 smaller, two-generation families gave Zmax = 2.89 at 0 = 0.07, but haplotype analysis showed non-linkage in one family. These data imply that a gene for Noonan syndrome is located on chromosome 12q, between D12S84 and D12S366.
努南综合征的特征为典型面容、身材矮小和先天性心脏缺陷。所有病例中约半数为散发病例，但常染色体显性遗传伴可变表达已得到充分证实。我们对一个患常染色体显性努南综合征的大型荷兰家族进行了全基因组连锁分析，将努南综合征基因定位于12号染色体（在θ=0.0时，Zmax=4.04）。在20个较小的两代家族中使用12号染色体标记进行连锁分析，在θ=0.07时Zmax=2.89，但单倍型分析显示其中一个家族无连锁关系。这些数据表明，努南综合征基因位于12q染色体上，在D12S84和D12S366之间。
