1, These patients served as probands in the present study.

2, The parents of a proband are obligate heterozygotes and therefore carry one mutant allele.

3, The results showed that phenotype of the proband was diagnosed as afibrinogenemia.

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

5, If the mother of the proband is a carrier ,[http:///proband.html] the chance of transmitting the disease-causing mutation in each pregnancy is 50%.

6, 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.

7, The risk to the sibs of the proband depends on the status of the parents.

8, 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.

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

10, The diagnostic criteria for ulcerative colitis and Crohn's disease in the probands have been described.

11, In contrast, direct DNA sequencing requires only a single sample from the proband.

12, 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.

13, Results No mutation of GJB6 and GJB3 genes was found in the proband and her parents.

14, Testing of relatives at risk: It is appropriate to test sibs of a proband so that appropriate dietary management can be instituted before symptoms occur.

15, Objective: To investigate the law and the state of prevalence in family on 5 cases of proband of adult polycystic kidney disease.

16, One of the important strategies in the prevention and cure of HNPCC is to find the proband and give the family genetic counseling.

17, Results The family history was consistent with a maternal inheritance and the proband exhibited a typical clinical feature of LHON.

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

19, 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.

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

21, In clinical scenarios, the patient of interest is shown by an arrow and is known as the proband.