先证者为一健康汉族女性新生儿。
先证者EXT2基因没有发现变异。
先证者为黎族男青年，属杂合子。
The propositus was a young man of Li ethnic group, belonging to heterozygote.
两位先证者血清中均无抗体。
男性先证者的同胞的患病风险取决于其母亲的携带者状态。
The risk to the sibs of a male proband depends upon the carrier status of the mother.
方法：对先证者及其家族的临床资料、实验室检查进行分析。
Methods:The clinic data and the laboratory results were analyzed in the proband and the other people in the family.
如果先证者的母亲是携带者，则每次怀孕传递致病突变的几率是50%。
If the mother of the proband is a carrier, the chance of transmitting the disease-causing mutation in each pregnancy is 50%.
方法：调查包括先证者3代家系成员共计13人，检测血清甲状腺激素。
Methods: Thyroid hormone was detected in total 13 persons including the proband and his 12 relatives.
头影测量分析结果提示先证者在骨面型及颌骨形态等方面无明显遗传倾向。
The result of cephalometric analysis indicated no obvious inherited tendency in the proband in terms of facial osseo type and jaw bone pattern.
如果先证者的CBS突变被鉴定，也可能提供有风险的家族成员进行携带者检测。
Carrier testing for at-risk family members may be available once the CBS mutations have been identified in the proband.
其亲属发病率高低与血缘关系近远相关，与先证者血缘关系越近的亲属患病率越高；
The higher the extent of the relation to the proband is, the higher the prevalence is.
方法：在有左室发育不全和二叶式主动脉瓣先证者的家系中进行非参数基因组连锁分析。
Methods: Family - based nonparametric genome - wide linkage analysis was performed in by either an HLHS or BAV proband.
先证者双肘膝关节毛囊角化性丘疹，足趾及跖部灶性胼胝样角化过度，20甲营养不良。
Proband also had special clinical feature including follicular hyperkeratosis on the elbows and knees, and onychodystrophy of 20 nails as well.
结论纤维蛋白原FGA基因复合杂合缺失是引起该家系先证者无纤维蛋白原血症的原因。
Conclusion Inherited afibrinogenemia is caused by the compound heterozygous deletion in the fibrinogen FGA gene.
方法选择186个2型DM核心家系中186例2型DM先证者和489例糖耐量正常的一级亲属。
Methods 186 T2DM probands and 489 normoglycemic first-degree relatives were selected from 186 T2DM nuclear families.
结论SLC26A4基因的N392Y、S448X复合杂合突变是导致该先证者耳聋发生的原因。
Conclusion The proband's hearing loss resulted from the compound heterozygous mutations N392Y and S448X for SLC26A4 gene.
家系先证者及其母亲，F家系先证者发现可疑脆性X染色体，分子遗传学检查证实为非脆性X综合征家系。
The probands of pedigrees E and F of the mother were found with suspicions fragile X chromosome, being confirmed as the non-fragile X pedigrees by the molecular genetic test.
方法按pcos诊断标准确立先证者核心家系73个，在先证者家乡选择正常人及其家系73个作为对照组。
Methods 73 PCOS probands with family history of PCOS were diagnosed according to the PCOS diagnostic criteria.
单倍型分析显示先证者及女儿具有相同的致病单倍型。结论报道了中国人常染色体显性遗传ed MD患者的表现型及基因型。
Haplotype analysis indicated that the proband and her daughter Shared the same causative haplotype. Conclusion This is the first report of the phenotype and genotype of AD-EDMD in Chinese.
方法采用实时荧光定量PCR检测113个腓骨肌萎缩症家系先证者、4个遗传性压力易感性神经病家系先证者和50名正常人PMP22基因重复或缺失突变。
Methods Duplications or deletions of?PMP22gene were detected in 113 CMT cases, 4 HNPP cases and 50 normal controls by using real-time quantitative PCR. Results (Thirty-six) of 113 CMT cases had the?
方法采用实时荧光定量PCR检测113个腓骨肌萎缩症家系先证者、4个遗传性压力易感性神经病家系先证者和50名正常人PMP22基因重复或缺失突变。
Methods Duplications or deletions of?PMP22gene were detected in 113 CMT cases, 4 HNPP cases and 50 normal controls by using real-time quantitative PCR. Results (Thirty-six) of 113 CMT cases had the?
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