在对先证者及其父母进行基于 DNA 的眼皮肤白化病(oculocutaneous albinism,OCA) 分型诊断基础上,对 OCA 高风险胎儿进行产前基因诊断。应用 PCR、DNA 序列测定和变性高效液相层析(DHPLC)等技术方法,分析患者及其父母的 OCA 相关基因,...
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在对先证者及其父母进行基于 DNA 的眼皮肤白化病(oculocutaneous albinism,OCA) 分型诊断基础上,对 OCA 高风险胎儿进行产前基因诊断。应用 PCR、DNA 序列测定和变性高效液相层析(DHPLC)等技术方法,分析患者及其父母的 OCA 相关基因,确定患者的 OCA 型和基因型后,在孕妇要求和知情同意的情况下,择时对再次怀孕的先证者母亲取绒毛或羊水,以 DNA 序列测定和 DHPLC 技术进行特定型的 OCA 产前基因诊断。结果28例 OCA 先证者中有19例为 OCA1,7为 OCA2,2例为 OCA4。28例 OCA 高风险胎儿产前基因诊断结果为4例基因型正常 (4例先证者均为 OCA1),17例为携带者(11例先证者为 OCA1,4例先证者为 OCA2,2例先证者为 OCA4),7例为复合杂合子患者(5例先证者为 OCA1,2例先证者为 OCA2)。24例产前诊断胎儿已出生或终止妊娠,表型或基因型验证与产前诊断结果相符,4例仍在妊娠中。在对先证者进行分型诊断并明确基因型的基础上,取绒毛或羊水进行高风险胎儿产前基因诊断是可行、有效的优生技术方法,具有创伤小、流产风险低、孕妇易于接受的优点。
Prader-Willi Syndrome （PWS） is a genetic disorder that is difficult to detect, particularly at an early age. PWS is caused by disruption of normal, epigenetically controlled gene function in the chromosome 15q11-q13...
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Prader-Willi Syndrome （PWS） is a genetic disorder that is difficult to detect, particularly at an early age. PWS is caused by disruption of normal, epigenetically controlled gene function in the chromosome 15q11-q13 region. Clinical symptoms are difficult to diagnose in infants and only become clearer at later ages as the patients develop hyperphagia and morbid obesity. Molecular genetic tests are able to definitively diagnose PWS and allow early diagnosis of the syndrome. High resolution cytogenetic testing, methylation-specific PCR （MS-PCR）, and linkage analysis are routinely used to diagnose PWS. To establish a linkage analysis method for Chinese patients, this study identified a useful set of STR markers in the typical PWS deletion and adjacent area, for linkage analysis in two Chinese families with PWS offspring. Using this method, the authors confn＇rned that one patient had a paternal deletion in chromosome 15q 11-q 13 and the other patient had maternal uniparental heterodisomy of chromosome 15. MS -PCR and high resolution chromosome G-banding also confirmed this diagnosis. This linkage analysis method can detect both deletion and uniparental disomy, thus providing valuable information for genetic counseling and the opportunity to analyze the relationship between the genotype and phenotype of PWS.
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