Pedigree

Study of different structures of additive genetic groups to increase the efficiency of genetic selection in beef cattle

G. A. Oliveira Junior, “Study of different structures of additive genetic groups to increase the efficiency of genetic selection in beef cattle”, vol. 13. pp. 115-116, 2014.

The structure of genetic groups is a technique that allows animals with unknown pa­ternity to be included in genetic evaluation programs. The ways these groups are formed are still arbitrary, making it important to study different formation strategies for genetic groups, aiming for a suitable framework for the genetic evaluation of seedstock in animal breeding programs.

Different impact of two mutations of a novel compound heterozygous protein C deficiency with late onset thrombosis

L. - H. Yang, Wang, M. - S., Zheng, F. - X., Li, J., Chen, Y., Jin, Y. - H., Xie, H. - X., Yang, X. - L., and Chen, B. - C., “Different impact of two mutations of a novel compound heterozygous protein C deficiency with late onset thrombosis”, vol. 13, pp. 2969-2977, 2014.

We investigated the alteration of coagulation state in a protein C (PC) deficiency pedigree and the impact of the PC gene mutations. The pedigree of a proband with cerebral hemorrhagic infarction had sixteen members with four generations. The plasma levels of PC activity (PC:A), protein S activity (PS:A), factor V:C and factor VIII:C, and routine coagulation tests were measured. Nine exons of the PC gene (PROC) were sequenced. Plasma PC:A and PC antigen (PC:Ag) of the proband were 26 and 18%, respectively, which was significantly lower than normal ranges.

Pedigree analysis of Mexican families with Fabry disease as a powerful tool for identification of heterozygous females

B. E. Gutiérrez-Amavizca, Orozco-Castellanos, R., Padilla-Gutiérrez, J. R., Valle, Y., and Figuera, L. E., “Pedigree analysis of Mexican families with Fabry disease as a powerful tool for identification of heterozygous females”, vol. 13, pp. 6752-6758, 2014.

Fabry disease (FD) is an X-linked lysosomal storage disease caused by α-galactosidase A deficiency; in contrast to other X-linked diseases, heterozygous females can be as affected as men. The construction and analysis of a family pedigree is a powerful tool to aid clinicians in diagnosis, establishment of inheritance pattern, and early detection of potentially affected relatives. The present study highlights the importance of pedigree analysis in families with FD for identifying other possibly affected relatives and investigating the clinical manifestations.

A novel splicing site mutation of the GPR143 gene in a Chinese X-linked ocular albinism pedigree

C. Y. Cai, Zhu, H., Shi, W., Su, L., Shi, O., Cai, C. Q., Ling, C., and Li, W. D., “A novel splicing site mutation of the GPR143 gene in a Chinese X-linked ocular albinism pedigree”, vol. 12, pp. 5673-5679, 2013.

Ocular albinism is an X-linked inherited disease characterized by hypopigmentation of the iris and nystagmus. To identify a new disease-causing mutation of ocular albinism, we collected a Han Chinese pedigree with 7 male congenital nystagmus patients over 3 generations. Slit-lamp photography and optical coherence tomography were performed for the proband. Genomic DNA was extracted from a whole blood sample from the proband using the high-salt method. Polymerase chain reaction (PCR) sequencing was carried out for GPR143 and FRMD7 genes.

Kin structure and parallel dispersal in the black-and-gold howler monkey Alouatta caraya (Platyrrhini, Atelidae)

R. G. Collevatti, Souza-Neto, A. C., Silva-Jr., N. J., and Telles, M. P. C., “Kin structure and parallel dispersal in the black-and-gold howler monkey Alouatta caraya (Platyrrhini, Atelidae)”, vol. 12, pp. 6018-6031, 2013.

We here investigated the kin structure and pattern of dispersal in the black-and-gold howler monkey (Alouatta caraya, Platyrrhini, Atelidae) based on genotype differences at nine microsatellite loci of 48 individuals from eight social groups along the riparian forest of the Tocantins River, Brazil. The genetic diversity (HE = 0.647) was similar to or higher than previously reported values in other Alouatta species.

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