工具与遗传病诊断教学课件.ppt

* * * 分子遗传所要解决的两大问题：DNA或者RNA要有足够量来分析，通常一些基因只有两个拷贝，在特定组织表达，少量的Mrna；序列的纯度问题。解决这两个问题形影的方法是：PCR，分子克隆。 * * MC：为了后续工作，大量地分离特定的基因或者DNA序列。需要将目的基因插入到微生物的单细胞中。微生物在培养基中生长富集基因。 * * * * * * * * * The caution of MSS MSS is only screening test, not diagnostic test. Further counseling and diagnostic testing should be offered to women whose MSS screening test result is positive. Negative result of MSS The risk is zero ≠ * Ultrasonography in prenatal diagnosis It is important to detect fetal assessment: fetal age, multiple pregnancies, fetal viability. It is important for the detection of morphological anomalies, such as, anencephaly, cystic hygrome(囊性水瘤). * Ultrasonography in genetic disorder chromosome aneuploidy. single-gene disorders (Holt-Oram syndrome). multifactorial disorders. Determination of fetal sex. * Detecting chromosome aneuploidy ①The aortic isthmus(主动脉峡) is significantly narrower in trisomy 21,18,13,and Turner syndrome than in normal fetuses. ② Measurment of nuchal translucency thickness (NTT) at 10-14 weeks may prove to be a useful method for screening chromosomal defects. * Nuchal translucency thickness (NTT) Nuchal translucency thickness: between the skin and the soft tissue overlying the cervical spine. 0.12cm in a normal 11-week fetus. The accumulation of fluid behind the fetal neck NT ↑ * Ultrasound for single-gene disorder Normal fetus Holt-Oram syndrome AD disease TBX5 transcription factor gene mutation * Invasive testing * The principal indications for Invasive testing ①Advanced maternal age. ②Previous child with a de novo chromosome abnormality. ③Presence of structural chromosome abnormality in one of the parents. ④Family history of a genetic disorder that may be diagnosed or ruled out by biochemical or DNA analysis. ⑤Family history of an X-linked disorder for which there is no specific prenatal diagnostic test ⑥Risk of a neural tube defect（such as, high MSAFP of MSS) ⑦Th