mtDNA analysis shows common ancestry in two kindreds with X-linked recessive hypoparathyroidism and reveals a heteroplasmic silent mutation.

Mumm, S; Whyte, MP; Thakker, RV; Buetow, KH; Schlessinger, D

Abstract:

Two kindreds residing in eastern Missouri and exhibiting X-linked recessive idiopathic hypoparathyroidism have been described. Genealogical records extending back five generations revealed no common ancestor. To investigate the possibility of relatedness, the DNA sequence of the mitochondrial D-loop was compared among several individuals in both kindreds. The mtDNA D-loop was amplified from the total DNA of individuals by use of nested PCR reactions, and the resulting 430-bp fragment was sequ...

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APA Style

Mumm, S., Whyte, M. P., Thakker, R. V., Buetow, K. H., & Schlessinger, D. (1997). mtDNA analysis shows common ancestry in two kindreds with X-linked recessive hypoparathyroidism and reveals a heteroplasmic silent mutation. American Journal of Human Genetics, 60(1), 153–159.

MLA Style

Mumm, S., et al. “MtDNA Analysis Shows Common Ancestry in Two Kindreds with X-Linked Recessive Hypoparathyroidism and Reveals a Heteroplasmic Silent Mutation.” American Journal of Human Genetics, vol. 60, no. 1, 1997, pp. 153–59.

Chicago Style

Mumm, S, MP Whyte, RV Thakker, KH Buetow, and D Schlessinger. 1997. “MtDNA Analysis Shows Common Ancestry in Two Kindreds with X-Linked Recessive Hypoparathyroidism and Reveals a Heteroplasmic Silent Mutation.” American Journal of Human Genetics 60 (1): 153–59.
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