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

先证者兄弟姐妹患病的风险取决于其父母。The risk to the sibs of the proband depends on the status of the parents.

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

结果先证者及其父母GJB3、GJB6基因测序未发现突变。Results No mutation of GJB6 and GJB3 genes was found in the proband and her parents.

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.

先证者的父母必定是杂合子，各携带一个突变等位基因。The parents of a proband are obligate heterozygotes and therefore carry one mutant allele.

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.

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通过直接DNA测序，对先证者的KCNJ2全部编码区进行分子遗传学分析，同时筛查对照受试者。Molecular genetic analysis of each proband was performed by direct DNA sequencing of the entire coding region of KCNJ2.

先证者为这一缺失的纯合子，具有中度贫血症状。The proband is a homozygote for this deletion mutation, with milder anemia than that of typical homozygotes of β-thalassemia.

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.

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.

方法对一个家系的患者和家族成员的病史、体征、心电图、彩色多普勒超声心动图等进行调查分析。Methods Proband with FASD and families members were evaluated by detailed history and physical examination, 12-lead ECG, 2D Doppler echocardiography.

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方法提取板层状鱼鳞病患者及家族成员的基因组DNA，采用PCR扩增TGM1基因所有的外显子及其邻近的剪切点并进行双向直接测序，并对TGM1基因的同源性进行分析。Methods The genomic DNA was extracted from the proband and his family members. All the encoding exons and adjacent splice sites of TGM1 gene were amplified by PCR.

方法采集先证者及其父母外周血并提取DNA，对GJB2、GJB6、GJB3基因编码区进行PCR扩增，以直接测序的方法进行突变分析。Methods DNA was extracted from peripheral blood of the proband and her parents. The GJB2, GJB6 and GJB3 gene mutations were analyzed by direct sequencing PCR products.

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。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.

现报告先证者的临床血液学资料和基因分析结果，并对它的分布特点和意义进行初步讨论。This paper reports the clinical hematological data of proband and the results of gene analysis, as well as a preliminary discussion on the characteristics and significance of its distribution.

结论板层状鱼鳞病患者转谷氨酰胺酶1的活性完全缺失，是其转谷氨酰胺酶1基因的无义突变，引起编码的蛋白缺陷。Conclusions The proband of lamellar ichthyosis in this family shows loss of transglutaminase1activity, which is resulted from a truncated transglutaminase1coded by the homozygous mutant TGM1gene.