proband

1. No variant was found in EXT2 gene of this proband.: 先证者EXT2基因没有发现变异。

2. No antibody was found in both of these two proband 'sera.: 两位先证者血清中均无抗体。

3. In contrast, direct DNA sequencing requires only a single sample from the proband.: 相比之下，直接测序只需要被检测者的血样。

4. The risk to the sibs of a male proband depends upon the carrier status of the mother.: 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。

5. The higher the extent of the relation to the proband is, the higher the prevalence is.: 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；

6. Methods: Thyroid hormone was detected in total 13 persons including the proband and his 12 relatives.: 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。

7. Methods:The clinic data and the laboratory results were analyzed in the proband and the other people in the family.: 方法：对先证者及其家族的临床资料、实验室检查进行分析。

8. Carrier testing for at-risk family members may be available once the CBS mutations have been identified in the proband.: 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。

9. Methods: Family - based nonparametric genome - wide linkage analysis was performed in by either an HLHS or BAV proband.: 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。

10. If the mother of the proband is a carrier, the chance of transmitting the disease-causing mutation in each pregnancy is 50%.: 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%。

11. Proband also had special clinical feature including follicular hyperkeratosis on the elbows and knees, and onychodystrophy of 20 nails as well.: 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。

12. The result of cephalometric analysis indicated no obvious inherited tendency in the proband in terms of facial osseo type and jaw bone pattern.: 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。

13. Results a homozygous mutation at exon 13 of the proband was found by parallel TGGE. Homozygous and heterozygous mutations were also found in the family by parallel TGGE.: 结果平行tgge发现，两患儿第13外显子存在一纯合突变，其父母此外显子存在杂合突变。

14. 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.: 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。

15. 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.: 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。

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