Over the course of typing mtDNA samples from various populations, researchers have observed that individuals often cluster into haplogroups that can be defined by particular polymorphic nucleotides (see Wallace et al. 1999, Ruiz-Pesini et al. 2004). These haplogroups were originally defined in the late 1980s and 1990s by grouping samples possessing the same or similar patterns when subjected to a series of restriction enzymes that were used to separate various mtDNA types from diverse populations around the world (Table 10.8). Mitochondrial DNA haplogroups have now been correlated to HV1/HV2 polymorphisms as well as entire mtGenome variation. Haplogroups A, B, C, D, E, F, G, and M are typically associated with Asians while most Native Americans fall into haplogroups A, B, C, and D. Haplogroups L1, L2, and L3 are African, and haplogroups H, I, J, K, T, U, V, W, and X are typically associated with European populations (Wallace et al. 1999).
Along the same lines as the multiplex SNP detection assay described above for resolving samples containing the most common HV1/HV2 types, Brandstätter et al. (2003) described a multiplex SNP system for categorizing European Caucasian haplogroups. This approach involves the analysis of 16 coding region SNPs to aid assignment of individual samples into one of the nine major European Caucasian mtDNA haplogroups listed above. For example, the presence of a cyto-sine at position 7028 indicates that the sample can be grouped into haplogroup H as opposed to the other groups whose individuals possess a thymine at 7028.
Another SNP typing assay was recently reported to examine 17 coding region SNPs in a single multiplexed detection assay (Quintans et al. 2004). A SNaPshot reaction (see Chapter 8) is used to probe the following mtDNA nucleotide positions: 3010, 3915, 3992, 4216, 4336, 4529, 4580, 4769, 4793, 6776, 7028, 10398, 10400, 10873, 12308, 12705, and 14766. This assay was capable of
Control Region Polymorphisms
(*not including 263G, 315.1C)
A (Asian) B (Asian) C (Asian) D (Asian) H (Caucasian) H1 (Caucasian) H2 (Caucasian) H3 (Caucasian) H4 (Caucasian) H5 (Caucasian) H6 (Caucasian) H7 (Caucasian) I (Caucasian) J (Caucasian) J1 (Caucasian) J2 (Caucasian) K (Caucasian) L1 (African)
U5 (Caucasian) V (Caucasian) W (Caucasian)
9 bp deletion, 16159C 13263G
2092T, 5178A, 8414T 7028C, 14766C 3010A
1719A, 8251A, 10238C 4216C, 12612G, 13708A 3010A
7476T, 15257A 12372A, 14798C 2758A, 3594T, 10810C
709A, 1888A, 4917G, 10463C, 13368A, 14905A, 15607G, 15928A, 8697A
709A, 1243C, 8251A, 8697G, 8994A
16233T, 16290T, 16319A, 235G 16217C, 16189C 16233T, 16298C, 16327T 16362C
73A and lack of CRS differences* 73A and lack of CRS differences* 73A and lack of CRS differences* 73A and lack of CRS differences* 73A and lack of CRS differences* 73A and lack of CRS differences* 73A and lack of CRS differences* 73A and lack of CRS differences* 16223T, 199C, 204C, 250C 16069T, 16126C, 295T 462T 195C
16187T, 16189C, 16223T, 16278T, 16311C
16223T, 16278T 16223T
16223T, 16298C 16126C, 16294T
16270T 16298C, 72C
16223T, 189G, 195C, 204C, 207A
1719A, 6221C, 8251G, 14470C 16189C, 16223T, 16278T, 195C
Table 10.8 Major mitochondrial haplogroups and the specific polymorphisms in the coding region or control region that define them (see Finnila et al. 2001, Herrnstadt et al. 2002, Brandstatter et al. 2003, Kong et al. 2003, Allard et al. 2004, Quintans et al. 2004). Note that not all haplogroups, which have been defined in the literature, are listed here.
breaking 266 samples into 20 different mtDNA haplogroup designations and aided in resolving some of the most common type (i.e., 263G, 315.1C) haplogroup H samples from one another.
Forensic population databases have been analyzed in terms of haplogroup information to aid in quality control of samples contained within a population group (Allard et al. 2002, Budowle et al. 2003, Allard et al. 2004).
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This book discusses the futility of curing stammering by common means. It traces various attempts at curing stammering in the past and how wasteful these attempt were, until he discovered a simple program to cure it. The book presents the life of Benjamin Nathaniel Bogue and his struggles with the handicap. Bogue devotes a great deal of text to explain the handicap of stammering, its effects on the body and psychology of the sufferer, and its cure.