Deletion mutation

DNA sequence polymorphism within the bovine adenosine monophosphate deaminase 1 (AMPD1) is associated with production traits in Chinese cattle

C. - B. Wei, Wang, J. - Q., Chen, F. - Y., Niu, H., and Li, K., DNA sequence polymorphism within the bovine adenosine monophosphate deaminase 1 (AMPD1) is associated with production traits in Chinese cattle, vol. 14, pp. 1025-1033, 2015.

The objectives of the present study were to detect an 18-bp deletion mutation in the bovine adenosine monophosphate deaminase 1 (AMPD1) gene and analyze its effect on growth traits in 2 Chinese cattle breeds using DNA sequencing and agarose electrophoresis. The five 19-bp polymerase chain reaction products of the AMPD1 gene exhibited 3 genotypes and 2 alleles: WW: homozygote genotype (wild-type); DD: homozygote genotype (mutant-type); WD: heterozygote genotype. Frequencies of the W allele varied from 66.15-70.35%.

Molecular analysis of the SMN gene mutations in spinal muscular atrophy patients in China

W. L. Liu, Li, F., He, Z. X., Ai, R., and Ma, H. W., Molecular analysis of the SMN gene mutations in spinal muscular atrophy patients in China, vol. 12, pp. 3598-3604, 2013.

Spinal muscular atrophy (SMA) is one of the most common autosomal recessive diseases. Survival motor neuron1 (SMN1) is the SMA disease-determining gene. We examined the molecular basis of SMA in 113 Chinese SMA patients. Homozygous exon 7 and 8 deletions in SMN1 were detected by PCR-RFLP. Heterozygous deletion of SMN1 was analyzed based on variation of the sequencing peak height of the two different base pairs of exons 7 and 8 between SMN1 and SMN2.

Clinical and genetic characterization of complete androgen insensitivity syndrome in a Chinese family

B. K. Li, Ding, Q., Wan, X. D., and Wang, X., Clinical and genetic characterization of complete androgen insensitivity syndrome in a Chinese family, vol. 10, pp. 1022-1031, 2011.

We studied a family with two cousins who were diagnosed with complete androgen insensitivity syndrome, an X-linked disorder caused by mutations in the androgen receptor gene. A pedigree analysis and a molecular study using PCR and DNA sequencing clarified each female family member’s androgen receptor status and revealed a mutation consisting of the deletion of exon 2 and surrounding introns of the androgen receptor gene. Based on the relative nucleotide positions, we concluded that the deletion mutation in exon 2 and its surrounding introns was approximately 6000 to 7000 bp.

Subscribe to Deletion mutation